VASCERN resources in all languages

Seront E, Van Damme A, Legrand C, Bisdorff-Bresson A, Orcel P, Funck-Brentano T, Sevestre MA, Dompmartin A, Quere I, Brouillard P, Revencu N, De Bortoli M, Hammer F, Clapuyt P, Dumitriu D, Vikkula M, Boon LM. Preliminary results of the European multicentric phase III trial regarding sirolimus in slow-flow vascular malformations. JCI Insight. 2023 Nov 8;8(21):e173095. doi: 10.1172/jci.insight.173095. PMID: 37937645.

This course is designed to provide healthcare professionals, researchers and patients with a better understanding of Marfan Syndrome. It covers signs and symptoms, specific aspects, and patient follow-up.

Click on the links below to explore the course

• Introduction
• Signs & Symptoms
• Characteristics
• Patient Follow-up
• Specific aspects
• Glossary
• Quiz

The new version 2 of the Marfan syndrome and Related Disorders Do’s & Don’ts. 

The new version 4 of the General Patient Pathway for Pediatric and Primary Lymphedema.

Deleeuw V, Carlson E, Renard M, Zientek KD, Wilmarth PA, Reddy AP, Manalo EC, Tufa SF, Keene DR, Olbinado M, Stampanoni M, Kanki S, Yanagisawa H, Mosquera LM, Sips P, De Backer J, Sakai LY. Unraveling the Role of TGFβ Signaling in Thoracic Aortic Aneurysm and Dissection Using Fbn1 Mutant Mouse Models. Matrix Biol. 2023 Sep 6:S0945-053X(23)00095-1. doi: 10.1016/j.matbio.2023.09.001. Epub ahead of print. PMID: 37683955.

Dieses Video ist Teil einer umfassenden dreiteiligen Videoreihe mit Dr. Michael Oberlin, einem erfahrenen Spezialisten für Lymphologie, und Elena Matta, einer leidenschaftlichen Verfechterin von pädiatrischen und primären Lymphödempatienten. Diese informative Reihe wurde sorgfältig in einem Frage- und Antwortformat zusammengestellt und behandelt dringende Fragen rund um Familienplanung, Schwangerschaft und Entbindung/Postpartale Versorgung für Patienten mit primärem Lymphödem. Sie wurde speziell für Menschen mit primärem Lymphödem und ihre Partner erstellt.

Dieses Video ist in deutscher Sprache mit Untertiteln, die derzeit nur in Englisch verfügbar sind.

Um zu den vollständigen Fragen und Antworten zu gelangen, klicken Sie bitte auf die nachstehenden Link:

• Deutsch

Dieses Video ist Teil einer umfassenden dreiteiligen Videoreihe mit Dr. Michael Oberlin, einem erfahrenen Spezialisten für Lymphologie, und Elena Matta, einer leidenschaftlichen Verfechterin von pädiatrischen und primären Lymphödempatienten. Diese informative Reihe wurde sorgfältig in einem Frage- und Antwortformat zusammengestellt und behandelt dringende Fragen rund um Familienplanung, Schwangerschaft und Entbindung/Postpartale Versorgung für Patienten mit primärem Lymphödem. Sie wurde speziell für Menschen mit primärem Lymphödem und ihre Partner erstellt.

Dieses Video ist in deutscher Sprache mit Untertiteln, die derzeit nur in Englisch verfügbar sind.

Um zu den vollständigen Fragen und Antworten zu gelangen, klicken Sie bitte auf die nachstehenden Link:

• Deutsch

This video is part of a comprehensive 3-part video series featuring Dr. Michael Oberlin, an experienced Lymphology specialist, and Elena Matta, a passionate pediatric and primary lymphedema patient advocate. This informative series has been thoughtfully crafted in a question and answer format, addressing pressing questions surrounding family planning, pregnancy, and delivery/postpartum care for primary lymphedema patients. Created specifically for individuals with primary lymphedema and their partners

This video is in German with subtitles currently available only in English.

To access the full questions and answers, please click on the links below:

• Bulgarian
• Danish
• Dutch
• English
• French
• German
• Italian
• Norwegian
• Portuguese
• Spanish
• Swedish

This video is part of a comprehensive 3-part video series featuring Dr. Michael Oberlin, an experienced Lymphology specialist, and Elena Matta, a passionate pediatric and primary lymphedema patient advocate. This informative series has been thoughtfully crafted in a question and answer format, addressing pressing questions surrounding family planning, pregnancy, and delivery/postpartum care for primary lymphedema patients. Created specifically for individuals with primary lymphedema and their partners

This video is in German with subtitles currently available only in English.

To access the full questions and answers, please click on the links below:

• Bulgarian
• Danish
• Dutch
• English
• French
• German
• Italian
• Norwegian
• Portuguese
• Spanish
• Swedish

Dieses Video ist Teil einer umfassenden dreiteiligen Videoreihe mit Dr. Michael Oberlin, einem erfahrenen Spezialisten für Lymphologie, und Elena Matta, einer leidenschaftlichen Verfechterin von pädiatrischen und primären Lymphödempatienten. Diese informative Reihe wurde sorgfältig in einem Frage- und Antwortformat zusammengestellt und behandelt dringende Fragen rund um Familienplanung, Schwangerschaft und Entbindung/Postpartale Versorgung für Patienten mit primärem Lymphödem. Sie wurde speziell für Menschen mit primärem Lymphödem und ihre Partner erstellt.

Dieses Video ist in deutscher Sprache mit Untertiteln, die derzeit nur in Englisch verfügbar sind.

Um zu den vollständigen Fragen und Antworten zu gelangen, klicken Sie bitte auf die nachstehenden Links:

• Deutsch

This video is part of a comprehensive 3-part video series featuring Dr. Michael Oberlin, an experienced Lymphology specialist, and Elena Matta, a passionate pediatric and primary lymphedema patient advocate. This informative series has been thoughtfully crafted in a question and answer format, addressing pressing questions surrounding family planning, pregnancy, and delivery/postpartum care for primary lymphedema patients. Created specifically for individuals with primary lymphedema and their partners

This video is in German with subtitles currently available only in English.

To access the full questions and answers, please click on the links below:

• Bulgarian
• Danish
• Dutch
• English
• French
• German
• Italian
• Norwegian
• Portuguese
• Spanish
• Swedish

The first edition of the VASCA Magazine issued in April 2020.

This comprehensive e-learning course on Hereditary Haemorrhagic Telangiectasia (HHT) is designed to provide healthcare professionals, researchers, and individuals affected by the condition with a thorough understanding of its diagnosis, management, and impact on patients’ lives.

Click the links below to explore the course

• Introduction
• Symptoms
• Epidemiology and Genetics
• Particularities
• Patient Follow-up
• Quiz

Seront E, Biard J.M, Van Damme A, Revencu N, Lengelé B, Schmitz S, de Toeuf C, Clapuyt P, Veyckemans F, Prégardien C, Vikkula M, Bernard P, Boon Laurence M. A case report of sirolimus use in early fetal management of lymphatic malformation. Nat Cardiovasc Res (2023). https://doi.org/10.1038/s44161-023-00280-4

The new version 2 of the Hereditary Haemorrhagic Telangiectasia Do’s and Don’ts Factsheets

In this webinar, Prof Tristan Mirault, Professor of Vascular Medicine from AP-HP Hôpital Européen Georges Pompidou, Dr. Anna Stenborg, Physician from Uppsala University Hospital, and Eva Collado, a vEDS patient advocate and Vice President of the Spanish Patient Organization for Ehlers-Danlos Syndromes and Hypermobility came together to address pressing questions submitted by vEDS patients across Europe.

Throughout the webinar, our experts addressed a wide range of topics related to vascular Ehlers-Danlos syndrome such as Pregnancy, Genetics, Dealing with vEDS, Medication and Research, and more.

This book is dedicated to children with Marfan syndrome and to all children who are different.

This PoK video (produced by the patient organisation HEVAS and revised and validated by the VASCA-WG) presents the various treatment options for lymphatic malformations. It is intended for patients and the general public and uses simple language to explain the various medical terms and procedures discussed.

Video in English. Subtitles are currently available in 7 European languages (English, Dutch, French, German, Italian, Spanish and Swedish).

This PoK video, produced by the patient organisation HEVAS and validated by the VASCA-WG, gives an introduction to Klippel-Trenaunay syndrome (KTS), a congenital vascular bone syndrome. It is intended for patients and the general public and uses simple language to explain the clinical characteristics of this rare disease.

Video in English. Subtitles are currently available in 7 European languages (English, Dutch, French, German, Italian, Spanish and Swedish).

This short PoK video explains how an error in the PIK3CA gene can be the cause of congenital vascular malformations, such as lymphatic and venous malformations, which can be isolated or occur in overgrowth syndromes. Diagnosis and treatment are also briefly covered.

It is intended for patients and the general public and uses simple language to introduce PIK3CA related vascular abnormalities, which includes the complex group of disorders known as PROS (PIK3CA-Related Overgrowth Spectrum).

Created by the patient organisation HEVAS (the Dutch Patient organisation for hemangioma and vascular malformations), this PoK was then revised and validated by VASCERN’s Vascular Anomalies Working Group (VASCA-WG).

Video in English with subtitles in English.

This PoK video gives an overview of genetic counseling in HTAD. Heritable Thoracic Aortic Disease is first briefly explained, followed by the how, why and where of genetic testing. Genetic counseling and its limitations are then explained in detail.

Wanga S, Silversides C, Dore A, de Waard V, Mulder B. Pregnancy and Thoracic Aortic Disease: Managing the Risks. Can J Cardiol. 2016 Jan;32(1):78-85. doi: 10.1016/j.cjca.2015.09.003. Epub 2015 Sep 18. PMID: 26604124.

Regitz-Zagrosek V, Roos-Hesselink JW, Bauersachs J, Blomström-Lundqvist C, Cífková R, De Bonis M, Iung B, Johnson MR, Kintscher U, Kranke P, Lang IM, Morais J, Pieper PG, Presbitero P, Price S, Rosano GMC, Seeland U, Simoncini T, Swan L, Warnes CA; ESC Scientific Document Group. 2018 ESC Guidelines for the management of cardiovascular diseases during pregnancy. Eur Heart J. 2018 Sep 7;39(34):3165-3241. doi: 10.1093/eurheartj/ehy340. PMID: 30165544.

Renard M, Francis C, Ghosh R, Scott AF, Witmer PD, Adès LC, Andelfinger GU, Arnaud P, Boileau C, Callewaert BL, Guo D, Hanna N, Lindsay ME, Morisaki H, Morisaki T, Pachter N, Robert L, Van Laer L, Dietz HC, Loeys BL, Milewicz DM, De Backer J. Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection. J Am Coll Cardiol. 2018 Aug 7;72(6):605-615. doi: 10.1016/j.jacc.2018.04.089. PMID: 30071989; PMCID: PMC6378369.

Arslan-Kirchner M, Arbustini E, Boileau C, Charron P, Child AH, Collod-Beroud G, De Backer J, De Paepe A, Dierking A, Faivre L, Hoffjan S, Jondeau G, Keyser B, Loeys B, Mayer K, Robinson PN, Schmidtke J. Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches. Eur J Hum Genet. 2016 Jan;24(1):e1-5. doi: 10.1038/ejhg.2015.225. Epub 2015 Oct 28. PMID: 26508578; PMCID: PMC4795237.

Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785. PMID: 20591885.

Hiratzka LF, Bakris GL, Beckman JA, Bersin RM, Carr VF, Casey DE Jr, Eagle KA, Hermann LK, Isselbacher EM, Kazerooni EA, Kouchoukos NT, Lytle BW, Milewicz DM, Reich DL, Sen S, Shinn JA, Svensson LG, Williams DM; American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines; American Association for Thoracic Surgery; American College of Radiology; American Stroke Association; Society of Cardiovascular Anesthesiologists; Society for Cardiovascular Angiography and Interventions; Society of Interventional Radiology; Society of Thoracic Surgeons; Society for Vascular Medicine. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation. 2010 Apr 6;121(13):e266-369. doi: 10.1161/CIR.0b013e3181d4739e. Epub 2010 Mar 16. Erratum in: Circulation. 2010 Jul 27;122(4):e410. PMID: 20233780.

Evangelista A, Flachskampf FA, Erbel R, Antonini-Canterin F, Vlachopoulos C, Rocchi G, Sicari R, Nihoyannopoulos P, Zamorano J; European Association of Echocardiography; Document Reviewers:; Pepi M, Breithardt OA, Plonska-Gosciniak E. Echocardiography in aortic diseases: EAE recommendations for clinical practice. Eur J Echocardiogr. 2010 Sep;11(8):645-58. doi: 10.1093/ejechocard/jeq056. Erratum in: Eur J Echocardiogr. 2011 Aug;12(8):642. PMID: 20823280.

Grabenwöger M, Alfonso F, Bachet J, Bonser R, Czerny M, Eggebrecht H, Evangelista A, Fattori R, Jakob H, Lönn L, Nienaber CA, Rocchi G, Rousseau H, Thompson M, Weigang E, Erbel R. Thoracic Endovascular Aortic Repair (TEVAR) for the treatment of aortic diseases: a position statement from the European Association for Cardio-Thoracic Surgery (EACTS) and the European Society of Cardiology (ESC), in collaboration with the European Association of Percutaneous Cardiovascular Interventions (EAPCI). Eur Heart J. 2012 Jul;33(13):1558-63. doi: 10.1093/eurheartj/ehs074. Epub 2012 May 4. PMID: 22561257.

Erbel R, Aboyans V, Boileau C, Bossone E, Bartolomeo RD, Eggebrecht H, Evangelista A, Falk V, Frank H, Gaemperli O, Grabenwöger M, Haverich A, Iung B, Manolis AJ, Meijboom F, Nienaber CA, Roffi M, Rousseau H, Sechtem U, Sirnes PA, Allmen RS, Vrints CJ; ESC Committee for Practice Guidelines. 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). Eur Heart J. 2014 Nov 1;35(41):2873-926. doi: 10.1093/eurheartj/ehu281. Epub 2014 Aug 29. Erratum in: Eur Heart J. 2015 Nov 1;36(41):2779. PMID: 25173340.

Goldstein SA, Evangelista A, Abbara S, Arai A, Asch FM, Badano LP, Bolen MA, Connolly HM, Cuéllar-Calàbria H, Czerny M, Devereux RB, Erbel RA, Fattori R, Isselbacher EM, Lindsay JM, McCulloch M, Michelena HI, Nienaber CA, Oh JK, Pepi M, Taylor AJ, Weinsaft JW, Zamorano JL, Dietz H, Eagle K, Elefteriades J, Jondeau G, Rousseau H, Schepens M. J Am Soc Echocardiogr. 2015 Feb;28(2):119-82. doi: 10.1016/j.echo.2014.11.015. PMID: 25623219.

Baumgartner H, Falk V, Bax JJ, De Bonis M, Hamm C, Holm PJ, Iung B, Lancellotti P, Lansac E, Rodriguez Muñoz D, Rosenhek R, Sjögren J, Tornos Mas P, Vahanian A, Walther T, Wendler O, Windecker S, Zamorano JL; ESC Scientific Document Group.Eur Heart J. 2017 Sep 21;38(36):2739-2791. doi: 10.1093/eurheartj/ehx391.PMID: 28886619

Baumgartner H, De Backer J, Babu-Narayan SV, Budts W, Chessa M, Diller GP, Lung B, Kluin J, Lang IM, Meijboom F, Moons P, Mulder BJM, Oechslin E, Roos-Hesselink JW, Schwerzmann M, Sondergaard L, Zeppenfeld K; ESC Scientific Document Group.Eur Heart J. 2020 Aug 29:ehaa554. doi: 10.1093/eurheartj/ehaa554. Online ahead of print.PMID: 32860028

In this webinar, Prof Tristan Mirault, Professor of Vascular Medicine from AP-HP Hôpital Européen Georges Pompidou, Dr. Anna Stenborg, Physician from Uppsala University Hospital, and Eva Collado, a vEDS patient advocate and Vice President of the Spanish Patient Organization for Ehlers-Danlos Syndromes and Hypermobility came together to address pressing questions submitted by vEDS patients across Europe.

Throughout the webinar, our experts addressed a wide range of topics related to vascular Ehlers-Danlos syndrome such as Pregnancy, Genetics, Dealing with vEDS, Medication, and more.

The Pediatric and Primary Lymphedema (PPL) Working Group endorses the COVID-19 statement by the Lymphoedema Support Network

Damstra RJ, Halk AB; Dutch Working Group on Lymphedema. The Dutch lymphedema guidelines based on the International Classification of Functioning, Disability, and Health and the chronic care model. J Vasc Surg Venous Lymphat Disord. 2017 Sep;5(5):756-765. doi: 10.1016/j.jvsv.2017.04.012. Epub 2017 Jun 30. PMID: 28818234.

This webinar consists of a scientific presentation followed by a Q&A session.

Featuring Vascular Anomalies Working Group (VASCA-WG) member: Dr Nader Ghaffarpour.

Video in English.

This webinar consists of a scientific presentation followed by a Q&A session.

Featuring Vascular Anomalies Working Group (VASCA-WG) member: Prof. Laurence Boon.

Video in English.

This webinar consists of a scientific presentation followed by a Q&A session.

Featuring Vascular Anomalies Working Group (VASCA-WG) member: Prof Andrea Diociaiuti.

Video in English.

This webinar consists of a scientific presentation followed by a Q&A session.

Featuring Vascular Anomalies Working Group (VASCA-WG) members: Prof. Miikka Vikkula, Prof. Emir Haxhija and Dr. Paolo Gasparella.

Video in English.

Revencu N, Fastre E, Ravoet M, Helaers R, Brouillard P, Bisdorff-Bresson A, Chung CWT, Gerard M, Dvorakova V, Irvine AD, Boon LM, Vikkula M. RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation. J Med Genet. 2020 Jan;57(1):48-52. doi: 10.1136/jmedgenet-2019-106024. Epub 2019 Jul 12. PMID: 31300548.

Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, González-Enseñat MA, Frieden I, Gérard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Léauté-Labrèze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M. Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. Circulation. 2017 Sep 12;136(11):1037-1048. doi: 10.1161/CIRCULATIONAHA.116.026886. Epub 2017 Jul 7. PMID: 28687708.

Horbach SER, van der Horst CMAM, Blei F, van der Vleuten CJM, Frieden IJ, Richter GT, Tan ST, Muir T, Penington AJ, Boon LM, Spuls PI; OVAMA Consensus Group. Development of an international core outcome set for peripheral vascular malformations: the OVAMA project. Br J Dermatol. 2018 Feb;178(2):473-481. doi: 10.1111/bjd.16029. Epub 2018 Jan 19. PMID: 28986976.

Soblet J, Kangas J, Nätynki M, Mendola A, Helaers R, Uebelhoer M, Kaakinen M, Cordisco M, Dompmartin A, Enjolras O, Holden S, Irvine AD, Kangesu L, Léauté-Labrèze C, Lanoel A, Lokmic Z, Maas S, McAleer MA, Penington A, Rieu P, Syed S, van der Vleuten C, Watson R, Fishman SJ, Mulliken JB, Eklund L, Limaye N, Boon LM, Vikkula M. Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations. J Invest Dermatol. 2017 Jan;137(1):207-216. doi: 10.1016/j.jid.2016.07.034. Epub 2016 Aug 9. PMID: 27519652.

Initiated by the patient advocacy groups in Europe and the United States and their medical advisory teams and approved by the VASCA WG.

Elajmi A, Clapuyt P, Hammer F, Bataille AC, Lengele B, Boon LM. Prise en charge des anomalies vasculaires chez l’enfant [Management of vascular anomalies in children]. Ann Chir Plast Esthet. 2016 Oct;61(5):480-497. French. doi: 10.1016/j.anplas.2016.06.015. Epub 2016 Sep 15. PMID: 27641115.

Elajmi A, Clapuyt P, Hammer F, Bataille AC, Lengele B, Boon LM. Prise en charge des anomalies vasculaires chez l’enfant [Management of vascular anomalies in children]. Ann Chir Plast Esthet. 2016 Oct;61(5):480-497. French. doi: 10.1016/j.anplas.2016.06.015. Epub 2016 Sep 15. PMID: 27641115.

Stillo F, Mattassi R, Diociaiuti A, Neri I, Baraldini V, Dalmonte P, Amato B, Ametrano O, Amico G, Bianchini G, Campisi C, Cattaneo E, Causin F, Cavalli R, Colletti G, Corbeddu M, Coppo P, DE Fiores A, DI Giuseppe P, El Hachem M, Esposito F, Fulcheri E, Gandolfo C, Grussu F, Guglielmo A, Leuzzi M, Manunza F, Moneghini L, Monzani N, Nicodemi E, Occella C, Orso M, Pagella F, Paolantonio G, Pasetti F, Rollo M, Ruggiero F, Santecchia L, Spaccini L, Taurino M, Vaghi M, Vercellio G, Zama M, Zocca A, Aguglia M, Castronovo EL, DE Lorenzi E, Fontana E, Gusson E, Lanza J, Lizzio R, Mancardi MM, Rosina E. Guidelines for Vascular Anomalies by the Italian Society for the study of Vascular Anomalies (SISAV). Int Angiol. 2022 Apr;41(2 Suppl 1):1-130. doi: 10.23736/S0392-9590.22.04902-1. PMID: 35546136.

Verhagen JMA, Kempers M, Cozijnsen L, Bouma BJ, Duijnhouwer AL, Post JG, Hilhorst-Hofstee Y, Bekkers SCAM, Kerstjens-Frederikse WS, van Brakel TJ, Lambermon E, Wessels MW, Loeys BL, Roos-Hesselink JW, van de Laar IMBH; National Working Group on BAV & TAA. Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives. Int J Cardiol. 2018 May 1;258:243-248. doi: 10.1016/j.ijcard.2018.01.145. Epub 2018 Feb 7. PMID: 29452988.

Renard M, Francis C, Ghosh R, Scott AF, Witmer PD, Adès LC, Andelfinger GU, Arnaud P, Boileau C, Callewaert BL, Guo D, Hanna N, Lindsay ME, Morisaki H, Morisaki T, Pachter N, Robert L, Van Laer L, Dietz HC, Loeys BL, Milewicz DM, De Backer J. Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection. J Am Coll Cardiol. 2018 Aug 7;72(6):605-615. doi: 10.1016/j.jacc.2018.04.089. PMID: 30071989; PMCID: PMC6378369.

Benke K, Ágg B, Meienberg J, Kopps AM, Fattorini N, Stengl R, Daradics N, Pólos M, Bors A, Radovits T, Merkely B, De Backer J, Szabolcs Z, Mátyás G. Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era. J Thorac Dis. 2018 Apr;10(4):2456-2460. doi: 10.21037/jtd.2018.04.40. PMID: 29850152; PMCID: PMC5949468.

Hostetler EM, Regalado ES, Guo DC, Hanna N, Arnaud P, Muiño-Mosquera L, Callewaert BL, Lee K, Leal SM, Wallace SE, Rideout AL, Dyack S, Aatre RD, Boileau C, De Backer J, Jondeau G, Milewicz DM. SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium. J Med Genet. 2019 Apr;56(4):252-260. doi: 10.1136/jmedgenet-2018-105583. Epub 2019 Jan 19. PMID: 30661052.

Schepers D, Tortora G, Morisaki H, MacCarrick G, Lindsay M, Liang D, Mehta SG, Hague J, Verhagen J, van de Laar I, Wessels M, Detisch Y, van Haelst M, Baas A, Lichtenbelt K, Braun K, van der Linde D, Roos-Hesselink J, McGillivray G, Meester J, Maystadt I, Coucke P, El-Khoury E, Parkash S, Diness B, Risom L, Scurr I, Hilhorst-Hofstee Y, Morisaki T, Richer J, Désir J, Kempers M, Rideout AL, Horne G, Bennett C, Rahikkala E, Vandeweyer G, Alaerts M, Verstraeten A, Dietz H, Van Laer L, Loeys B. A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3. Hum Mutat. 2018 May;39(5):621-634. doi: 10.1002/humu.23407. Epub 2018 Mar 6. PMID: 29392890; PMCID: PMC5947146.

Arnaud P, Hanna N, Aubart M, Leheup B, Dupuis-Girod S, Naudion S, Lacombe D, Milleron O, Odent S, Faivre L, Bal L, Edouard T, Collod-Beroud G, Langeois M, Spentchian M, Gouya L, Jondeau G, Boileau C. Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome. J Med Genet. 2017 Feb;54(2):100-103. doi: 10.1136/jmedgenet-2016-103996. Epub 2016 Aug 31. PMID: 27582083.

Roos-Hesselink JW, Budts W, Walker F, De Backer JFA, Swan L, Stones W, Kranke P, Sliwa-Hahnle K, Johnson MR. Organisation of care for pregnancy in patients with congenital heart disease. Heart. 2017 Dec;103(23):1854-1859. doi: 10.1136/heartjnl-2017-311758. Epub 2017 Jul 24. PMID: 28739807.

van Hagen IM, van der Linde D, van de Laar IM, Muiño Mosquera L, De Backer J, Roos-Hesselink JW. Pregnancy in Women With SMAD3 Mutation. J Am Coll Cardiol. 2017 Mar 14;69(10):1356-1358. doi: 10.1016/j.jacc.2016.12.029. PMID: 28279300.

Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Diéz NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B. Arterial tortuosity syndrome: 40 new families and literature review. Genet Med. 2018 Oct;20(10):1236-1245. doi: 10.1038/gim.2017.253. Epub 2018 Jan 11. Erratum in: Genet Med. 2018 Sep 10;: PMID: 29323665.

Dupuis-Girod S, Shovlin CL, Kjeldsen AD, Mager HJ, Sabba C, Droege F, Fargeton AE, Fialla AD, Gandolfi S, Hermann R, Lenato GM, Manfredi G, Post MC, Rennie C, Suppressa P, Sure U; ePag group; Buscarini E. European Reference Network for Rare Vascular Diseases (VASCERN): When and how to use intravenous bevacizumab in Hereditary Haemorrhagic Telangiectasia (HHT)? Eur J Med Genet. 2022 Oct;65(10):104575. doi: 10.1016/j.ejmg.2022.104575. Epub 2022 Aug 5. PMID: 35940549.

Shovlin CL, Buscarini E, Sabbà C, Mager HJ, Kjeldsen AD, Pagella F, Sure U, Ugolini S, Torring PM, Suppressa P, Rennie C, Post MC, Patel MC, Nielsen TH, Manfredi G, Lenato GM, Lefroy D, Kariholu U, Jones B, Fialla AD, Eker OF, Dupuis O, Droege F, Coote N, Boccardi E, Alsafi A, Alicante S, Dupuis-Girod S. The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care. Eur J Med Genet. 2022 Jan;65(1):104370. doi: 10.1016/j.ejmg.2021.104370. Epub 2021 Nov 1. PMID: 34737116.

Faughnan ME, Mager JJ, Hetts SW, Palda VA, Lang-Robertson K, Buscarini E, Deslandres E, Kasthuri RS, Lausman A, Poetker D, Ratjen F, Chesnutt MS, Clancy M, Whitehead KJ, Al-Samkari H, Chakinala M, Conrad M, Cortes D, Crocione C, Darling J, de Gussem E, Derksen C, Dupuis-Girod S, Foy P, Geisthoff U, Gossage JR, Hammill A, Heimdal K, Henderson K, Iyer VN, Kjeldsen AD, Komiyama M, Korenblatt K, McDonald J, McMahon J, McWilliams J, Meek ME, Mei-Zahav M, Olitsky S, Palmer S, Pantalone R, Piccirillo JF, Plahn B, Porteous MEM, Post MC, Radovanovic I, Rochon PJ, Rodriguez-Lopez J, Sabba C, Serra M, Shovlin C, Sprecher D, White AJ, Winship I, Zarrabeitia R. Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia. Ann Intern Med. 2020 Dec 15;173(12):989-1001. doi: 10.7326/M20-1443. Epub 2020 Sep 8. PMID: 32894695.

Eker OF, Boccardi E, Sure U, Patel MC, Alicante S, Alsafi A, Coote N, Droege F, Dupuis O, Fialla AD, Jones B, Kariholu U, Kjeldsen AD, Lefroy D, Lenato GM, Mager HJ, Manfredi G, Nielsen TH, Pagella F, Post MC, Rennie C, Sabbà C, Suppressa P, Toerring PM, Ugolini S, Buscarini E, Dupuis-Girod S, Shovlin CL. European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT). Orphanet J Rare Dis. 2020 Jun 29;15(1):165. doi: 10.1186/s13023-020-01386-9. PMID: 32600364; PMCID: PMC7322871.

Shovlin CL, Millar CM, Droege F, Kjeldsen A, Manfredi G, Suppressa P, Ugolini S, Coote N, Fialla AD, Geisthoff U, Lenato GM, Mager HJ, Pagella F, Post MC, Sabbà C, Sure U, Torring PM, Dupuis-Girod S, Buscarini E; VASCERN-HHT. Safety of direct oral anticoagulants in patients with hereditary hemorrhagic telangiectasia. Orphanet J Rare Dis. 2019 Aug 28;14(1):210. doi: 10.1186/s13023-019-1179-1. PMID: 31462308; PMCID: PMC6714298.

Shovlin C, Bamford K, Sabbà C, Mager HJ, Kjeldsen A, Droege F, Buscarini E, Dupuis-Girod S; VASCERN HHT. Prevention of serious infections in hereditary hemorrhagic telangiectasia: roles for prophylactic antibiotics, the pulmonary capillaries-but not vaccination. Haematologica. 2019 Feb;104(2):e85-e86. doi: 10.3324/haematol.2018.209791. PMID: 30705116; PMCID: PMC6355489.

Shovlin CL, Buscarini E, Kjeldsen AD, Mager HJ, Sabba C, Droege F, Geisthoff U, Ugolini S, Dupuis-Girod S. European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT). Orphanet J Rare Dis. 2018 Aug 15;13(1):136. doi: 10.1186/s13023-018-0850-2. PMID: 30111344; PMCID: PMC6094583.

Buscarini E, Botella LM, Geisthoff U, Kjeldsen AD, Mager HJ, Pagella F, Suppressa P, Zarrabeitia R, Dupuis-Girod S, Shovlin CL; VASCERN-HHT. Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia. Orphanet J Rare Dis. 2019 Feb 4;14(1):28. doi: 10.1186/s13023-018-0982-4. PMID: 30717761; PMCID: PMC6360670.

Dupuis-Girod S, Buscarini E. Response to Bevacizumab for the treatment of Rendu-Osler disease-A note of caution. Liver Int. 2017 Jun;37(6):928. doi: 10.1111/liv.13385. PMID: 28544692.

Dupuis-Girod S, Cottin V, Shovlin CL. The Lung in Hereditary Hemorrhagic Telangiectasia. Respiration. 2017;94(4):315-330. doi: 10.1159/000479632. Epub 2017 Aug 30. PMID: 28850955.

Shovlin CL, Buscarini E, Hughes JMB, Allison DJ, Jackson JE. Long-term outcomes of patients with pulmonary arteriovenous malformations considered for lung transplantation, compared with similarly hypoxaemic cohorts. BMJ Open Respir Res. 2017 Oct 13;4(1):e000198. doi: 10.1136/bmjresp-2017-000198. PMID: 29071074; PMCID: PMC5652477.

Andrejecsk JW, Hosman AE, Botella LM, Shovlin CL, Arthur HM, Dupuis-Girod S, Buscarini E, Hughes CCW, Lebrin F, Mummery CL, Post MC, Mager JJ. Executive summary of the 12th HHT international scientific conference. Angiogenesis. 2018 Feb;21(1):169-181. doi: 10.1007/s10456-017-9585-2. PMID: 29147802.

Wassef M, Blei F, Adams D, Alomari A, Baselga E, Berenstein A, Burrows P, Frieden IJ, Garzon MC, Lopez-Gutierrez JC, Lord DJ, Mitchel S, Powell J, Prendiville J, Vikkula M; ISSVA Board and Scientific Committee. Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies. Pediatrics. 2015 Jul;136(1):e203-14. doi: 10.1542/peds.2014-3673. Epub 2015 Jun 8. Review.

Bersano A, Khan N, Fuentes B, Acerbi F, Canavero I, Tournier-Lasserve E, Vajcoczy P, Luisa Zedde M, Hussain S, Lemeret S, Kraemer M, Herve D. European Stroke Organisation (ESO) Guidelines on Moyamoya angiopathy: Endorsed by Vascular European Reference Network (VASCERN). European Stroke Journal. 2023;0(0). doi:10.1177/23969873221144089

Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, Johnson D, Pepin M, Robert L, Sanders L, Wheeldon N.Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):40-47. doi: 10.1002/ajmg.c.31553. Review. PMID: 28306228

Empfehlungen für an seltenen gefässkrankheiten leidenden patienten

Afin d’informer et d’aider parents, enfants, adolescents et adultes porteurs d’un angiome, les Cliniques Universitaires St-Luc de Bruxelles ont édité une brochure “Petit Pierre et la tâche mystérieuse”.

L’ouvrage est présenté sous forme de questions-réponses fréquemment posées.

VASCERN a le plaisir de vous partager sa version e-book

Bakoumba, un ouvrage dédié aux enfants atteints du syndrome de Marfan et à tous les enfants différents. Pour le consulter, contactez l’association Marfans via le lien ci-dessous qui vous donnera le code d’accès.

All Factsheets in one document

Ingrid M. B. H. van de Laar, Eloisa Arbustini, Bart Loeys, Erik Björck, Lise Murphy, Maarten Groenink, Marlies Kempers, Janneke Timmermans, Jolien Roos-Hesselink, Kalman Benke, Guglielmina Pepe, Barbara Mulder, Zoltan Szabolcs, Gisela Teixidó-Turà, Leema Robert, Yaso Emmanuel, Arturo Evangelista, Alessandro Pini, Yskert von Kodolitsch, Guillaume Jondeau, Julie De Backer. European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants. Orphanet J Rare Dis 14,264 (2019) doi:10.1186/s13023-019-1186-2

Eker OF, Boccardi E, Sure U, Patel MC, Alicante S, Alsafi A, Coote N, Droege F, Dupuis O, Fialla AD, Jones B, Kariholu U, Kjeldsen AD, Lefroy D, Lenato GM, Mager HJ, Manfredi G, Nielsen TH, Pagella F, Post MC, Rennie C, Sabbà C, Suppressa P, Toerring PM, Ugolini S, Buscarini E, Dupuis-Girod S, Shovlin CL. Orphanet J Rare Dis. 2020 Jun 29;15(1):165. doi: 10.1186/s13023-020-01386-9. PMID: 32600364

Faughnan ME, Mager JJ, Hetts SW, Palda VA, Lang-Robertson K, Buscarini E, Deslandres E, Kasthuri RS, Lausman A, Poetker D, Ratjen F, Chesnutt MS, Clancy M, Whitehead KJ, Al-Samkari H, Chakinala M, Conrad M, Cortes D, Crocione C, Darling J, de Gussem E, Derksen C, Dupuis-Girod S, Foy P, Geisthoff U, Gossage JR, Hammill A, Heimdal K, Henderson K, Iyer VN, Kjeldsen AD, Komiyama M, Korenblatt K, McDonald J, McMahon J, McWilliams J, Meek ME, Mei-Zahav M, Olitsky S, Palmer S, Pantalone R, Piccirillo JF, Plahn B, Porteous MEM, Post MC, Radovanovic I, Rochon PJ, Rodriguez-Lopez J, Sabba C, Serra M, Shovlin C, Sprecher D, White AJ, Winship I, Zarrabeitia R. Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia. Ann Intern Med. 2020 Dec 15;173(12):989-1001. doi: 10.7326/M20-1443. Epub 2020 Sep 8. PMID: 32894695.

Shovlin CL, Millar CM, Droege F, Kjeldsen A, Manfredi G, Suppressa P, Ugolini S, Coote N, Fialla AD, Geisthoff U, Lenato GM, Mager HJ, Pagella F, Post MC, Sabbà C, Sure U, Torring PM, Dupuis-Girod S, Buscarini E; VASCERN-HHT. Safety of direct oral anticoagulants in patients with hereditary hemorrhagic telangiectasia. Orphanet J Rare Dis. 2019 Aug 28;14(1):210. doi: 10.1186/s13023-019-1179-1. PMID: 31462308; PMCID: PMC6714298.

Buscarini E, Botella LM, Geisthoff U, Kjeldsen AD, Mager HJ, Pagella F, Suppressa P, Zarrabeitia R, Dupuis-Girod S, Shovlin CL; VASCERN-HHT. Safety of thalidomide and bevacizumab in patients with hereditary hemorrhagic telangiectasia. Orphanet J Rare Dis. 2019 Feb 4;14(1):28. doi: 10.1186/s13023-018-0982-4. PMID: 30717761; PMCID: PMC6360670.

Shovlin C, Bamford K, Sabbà C, Mager HJ, Kjeldsen A, Droege F, Buscarini E, Dupuis-Girod S; VASCERN HHT. Prevention of serious infections in hereditary hemorrhagic telangiectasia: roles for prophylactic antibiotics, the pulmonary capillaries-but not vaccination. Haematologica. 2019 Feb;104(2):e85-e86. doi: 10.3324/haematol.2018.209791. PMID: 30705116; PMCID: PMC6355489.

Claire SHOVLIN (UK), Saverio ALICANTE (Italy), Luisa BOTELLA (Spain), Nicky COOTE (UK), Claudia CROCIONE (Italy), Freya DROEGE (Germany), Didier ERASME (France), Anette KJELDSEN (Denmark), David LEFROY (UK), Gennaro Mariano LENATO (Italy), Hans-Jurgen MAGER (The Netherlands), Marco POST (The Netherlands), Carlo SABBÀ (Italy), Patrizia SUPPRESSA (Italy) ; Ulrich SURE (Germany), Pernille TØRRING (Denmark), Sara UGOLINI (Italy), Elisabetta BUSCARINI (Italy), and Sophie DUPUIS-GIROD (France)

Shovlin CL, Buscarini E, Kjeldsen AD, Mager HJ, Sabba C, Droege F, Geisthoff U, Ugolini S, Dupuis-Girod S. Haematologica. 2019 Feb;104(2):e85-e86. doi: 10.3324/haematol.2018.209791.

European Association for the Study of the Liver. EASL Clinical Practice Guidelines: Vascular diseases of the liver. J Hepatol. 2016 Jan;64(1):179-202. doi: 10.1016/j.jhep.2015.07.040. Epub 2015 Oct 26. PMID: 26516032.

Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, Spears J, Brown DH, Buscarini E, Chesnutt MS, Cottin V, Ganguly A, Gossage JR, Guttmacher AE, Hyland RH, Kennedy SJ, Korzenik J, Mager JJ, Ozanne AP, Piccirillo JF, Picus D, Plauchu H, Porteous ME, Pyeritz RE, Ross DA, Sabba C, Swanson K,Terry P, Wallace MC, Westermann CJ, White RI, Young LH, Zarrabeitia R; J Med Genet. 2011

Buscarini E, Plauchu H, Garcia Tsao G, White RI Jr, Sabbà C, Miller F, Saurin JC, Pelage JP, Lesca G, Marion MJ, Perna A, Faughnan ME. Liver Int. 2006.

All Pediatric and Primary Lymphedema (PPL) Factsheets in one document

The Pediatric and Primary Lymphedema (PPL) Working Group endorses the COVID-19 statement by the Lymphoedema Support Network. 

The Children’s Lymphoedema Special Interest Group (CLSIG) has produced a Children’s Charter.

Supporting documents and clinic information are available here

The Children’s Lymphoedema Special Interest Group (CLSIG) has produced a Children’s Charter.

Supporting documents and clinic information are available here

The Children’s Lymphoedema Special Interest Group (CLSIG) has produced a Children’s Charter.

Supporting documents and clinic information are available here

The Children’s Lymphoedema Special Interest Group (CLSIG) has produced a Children’s Charter.

Supporting documents and clinic information are available here

German guidline “Diagnostis and therapy of lymphedema“: Jörg Wilting, Rolf Bartkowski, Rüdiger Baumeister, Etelka Földi, Susanna Stöhr, Gerson Strubel, Klaus Schrader, Jürg Traber, May 2017

Report of German Guidelines with all the collaborating members from Germany, Austria and Switzerland

German guideline “Diagnostics and therapy of lymphedema“: Jörg Wilting, Rolf Bartkowski, Rüdiger Baumeister, Etelka Földi, Susanna Stöhr, Gerson Strubel, Klaus Schrader, Jürg Traber, May 2017

German guideline “Diagnostics and therapy of lymphedema“: Jörg Wilting, Rolf Bartkowski, Rüdiger Baumeister, Etelka Földi, Susanna Stöhr, Gerson Strubel, Klaus Schrader, Jürg Traber, S2k Leitlinie – Diagnostik und Therapie der Lymphödeme AWMF Reg.-Nr. 058-001, May 2017

The German guidelines are published here (organised by by 32 different groups in Germany, Austria and Switzerland).

Damstra RJ, Halk A-B. The Dutch lymphedema guidelines based on the International Classification of Functioning, Disability, and Health and the chronic care model, Journal of Vascular Surgery, 5 (2017) 756-765. doi:10.1016/j.jvsv.2017.04.012 (contains condensed summary from Dutch 2015 Lymphedema Guidelines)

This video is validated by members of the Pediatric and Primary Lymphedema Working Group (PPL WG).

In this Pill of Knowledge (PoK), two teenagers, Laura and Sven, ask each other basic questions about living with lymphedema.

Video in Italian. Subtitles available in English, Danish, Dutch, Finnish, French, German, Italian, Norwegian, Portuguese, Spanish and Swedish.

Created by andLINFA (The National Association of Sufferers of Lymphatic Disorders – Portugal) and validated by members of the Pediatric and Primary Lymphedema Working Group (PPL WG).

In this Pill of Knowledge (PoK), Leonor, a Portuguese girl with lymphedema gives her testimonial of what it is like to live with this rare disease. It is suitable for both children and adults and a great resource for raising awareness of PPL.

Video is in Portuguese but subtitles are available in 9 European languages (Portuguese, English, Danish, Swedish, Dutch, Italian, Spanish, German and French).

This PoK video (produced by the patient organisation HEVAS and revised and validated by the VASCA-WG) gives an introduction on the lymphatic system and lymphatic malformations. It is intended for patients and the general public and uses simple language to explain the various medical terms discussed.

Video in English. Subtitles are currently available in 7 European languages (English, Dutch, French, German, Italian, Spanish and Swedish).

This video, produced by the patient organisation HEVAS and validated by the VASCA-WG, describes the treatments currently available for lymphatic malformations in a clear and understandable manner suited for patients.

View this video here

This video, produced by the patient organisation HEVAS and validated by the VASCA-WG, talks about the lymphatic system and lymphatic malformations. This video has been made for patients and introduces the patient organisation HEVAS and their work.

View this video here

Created by Dr. Kristiina Kyrklund (Pediatric Surgeon, Helsinki University Hospital, Helsinki, Finland)

In this Pill of Knowledge (PoK) Dr. Kristiina Kyrklund gives an introduction on the individualized management of vascular anomalies and how the chosen treatment is based on the characteristic symptoms and location of the anomaly. Suitable for both healthcare professsionals and patients.

Video in English. Subtitles available in 8 European languages (English, Dutch, Finnish, French, German, Italian, Spanish and Swedish).

Created by Prof. Leo Schultze Kool (Interventional Radiologist, Radboud University Medical Center, Nijmegen, Netherlands).

This Pill of knowledge (PoK) gives a brief summary of why multi-disciplinary expert teams are so necessary for the management and treatment of vascular anomalies. It is intended for the general public.

Video in English. Subtitles available in 8 European languages (English, Dutch, Finnish, French, German, Italian, Spanish and Swedish)

Created by Dr. Friedrich Kapp (Physician Scientist, University Medical Center, Freiburg, Germany).

This Pill of Knowledge (PoK) talks about the diagnostic approaches for vascular anomalies. The various types of examination and tests involved in reaching an appropriate diagnosis are described. This PoK is a valuable tool for healthcare professionals and patients wanting to learn more about how vascular anomalies are diagnosed.

Video in English. Subtitles available in 8 European languages (English, Dutch, Finnish, French, German, Italian, Spanish and Swedish).

Created by Prof. Laurence Boon (Plastic Surgeon, Coordinator of the Center for Vascular Anomalies, Cliniques Universitaires St Luc, Brussels, Belgium).

This Pill of Knowledge (PoK) gives a brief overview of the classification of vascular anomalies. It is intended for the medical community who is not familiar with these anomalies as it introduces the main types of vascular anomalies and their characteristics.

Video in English. Subtitles available in 8 European languages (English, Dutch, Finnish, French, German, Italian, Spanish and Swedish).

Chetty SP, Shaffer BL, Norton ME. Management of pregnancy in women with genetic disorders, Part 1: Disorders of the connective tissue, muscle, vascular, and skeletal systems.Obstet Gynecol Surv. 2011 Nov;66(11):699-709. Review

Bergqvist D, Björck M, Wanhainen A. Treatment of vascular Ehlers-Danlos syndrome: a systematic review. Ann Surg. 2013 Aug;258(2):257-61. doi: 10.1097/SLA.0b013e31829c7a59. Review

Sobey G. Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests. Arch Dis Child. 2015 Jan;100(1):57-61

Boodhwani M, Andelfinger G, Leipsic J, Lindsay T, McMurtry MS, Therrien J, Siu SC; Canadian Cardiovascular Society. Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. Can J Cardiol. 2014 Jun;30(6):577-89.

Wiesmann T, Castori M, Malfait F, Wulf H. Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s). Orphanet J Rare Dis. 2014 Jul 23;9:109. doi: 10.1186/s13023-014-0109-5. Review

Benchellal ZA, Huten N, Danquechin Dorval E, Podeur L, Rahili A, Lemeret S, De Muret A. Abdominal emergencies in type IV ehlers-Danlos syndrome. Gastroenterol Clin Biol. 1998 Mar;22(3):343-5. French

Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, Johnson D, Pepin M, Robert L, Sanders L, Wheeldon N. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):40-47. doi: 10.1002/ajmg.c.31553. Review. PMID: 28306228

Malfait F, Castori M, Francomano CA, Giunta C, Kosho T, Byers PH. The Ehlers-Danlos syndromes. Nat Rev Dis Primers. 2020 Jul 30;6(1):64. doi: 10.1038/s41572-020-0194-9. PMID: 32732924.

This webinar consists of a scientific presentation followed by a Q&A session.

Involving Dr. Michael Frank, Chair of our Medium-Sized Arteries Working Group.

Video in English.

This webinar consists of a scientific presentation followed by a Q&A session.

Involving Dr. Fransiska Malfait, Co-Chair of our Medium-Sized Arteries Working Group.

Video in English.

This video presented by Dr. Fransiska Malfait, clinical geneticist, Center of Medical Genetics, Ghent University Hospital, Ghent, Belgium gives an introduction to vascular Ehlers-Danlos syndrome (vEDS) and presents the major and minor clinical criteria for vEDS from the 2017 International Classification for all types of Ehlers-Danlos syndromes published in the American Journal of Human Genetics. The Villefranche Nosology is also mentioned.

Dr. Leema Robert, consultant clinical geneticist, Guys and St. Thomas Hospital , London, UK presents the goals, actions and structure of VASCERN as well as the accomplished and ongoing work of the MSA WG, that currently covers vascular Ehlers-Danlos syndrome.

This video is a question and answer session between Carina Mainka, ePAG patient advocate and mother of a child with primary lymphedema, and Prof. Sahar Mansour, Consultant in Clinical Genetics from St George’s University NHS Hospital on genetics in primary lymphedema.

Prof. Mansour explains how genetics can affect primary lymphedema and the importance of genetic testing for patients and families with questions from Carina.

Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, Kjeldsen AD, Plauchu H. Am J Med Genet 2000.

This webinar consists of a informative presentation followed by an interactive Q&A session. Involving clinicians and patient advocates from our Hereditary Haemorrhagic Telangiectasia Working Group (HHT-WG): Prof Anette Kjeldsen, Prof Urban Geisthoff, Dr Freya Droege, Dr Ruben Hermann, Christina Grabowski.

Video in English.

This webinar consists of a informative presentation followed by an interactive Q&A session. Involving clinicians and patient advocates from our Hereditary Haemorrhagic Telangiectasia Working Group (HHT-WG): Dr. Hans-Jurgen Mager, Prof. Marco Post, Claudia Crocione, Christina Grabowski and Ria Blom.

Video in English.

Hereditary Haemorrhagic Telangiectasia (HHT) is more than a bleeding Nose. What an ENT doctor needs to know about HHT and why is made by Prof Anette Kjeldsen (HHT-WG Member, from the HHT Centre at Odense University Hospital, Denmark) and is intended for Ear, Nose & Throat (ENT) Doctors in order to help them properly recognize the signs and symptoms of HHT. As ENT doctors are often the first healthcare professionals that HHT patients consult, it is essential for them to be able to identify a potential HHT patient and refer these patients to an HHT expert Centre for screening and treatment in order to decrease patient morbidity.

Video in English.

An Overview of Hereditary Haemorrhagic Telangiectasia features an informative presentation by Prof Claire Shovlin (Chair of the HHT WG from Hammersmith Hospital – Imperial College Healthcare NHS Trust, UK). This PoK is accessible to everyone and gives viewers an introduction to HHT by explaining its main clinical features (and their frequency) in addition to the genetics and aetiology of this rare disease.

Video in English. Subtitles available in 7  languages (English, Dutch, Danish, French, Italian, German and Spanish).

This video introduces HHT, the HHT-WG and their expertise in this rare vascular disease. This is a welcoming first entry for people learning about HHT for the first time.  Common problems of HHT are presented.  The video also presents the data derived over more than 30 years by HCP Leads within VASCERN HHT that indicates life expectancy in HHT is remarkably good, provided that patients are properly screened and receive the benefits of modern medicine. This video is mainly directed at HHT patients but is also of interest to the medical community and the general public wishing to learn more about HHT and the HHT-WG in VASCERN. Video in English. Subtitles available in 7  languages (English, Dutch, Danish, French, Italian, German and Spanish).

Presented by Fransiska Malfait, Clinical Geneticist, Center of Medical Genetics, Ghent University Hospital, Ghent, Belgium.

This video gives an overview of the animal (mouse) models and pre-clinical studies that have been published for vascular Ehlers-Danlos syndrome and their findings.

Presented by Dr. Leema Robert, Consultant Clinical Geneticist, Guys and St. Thomas Hospital, London, UK.

Dr. Leema Robert, gives an overview of the vEDS services in the UK and how they are organized. The two genetic services providing pediatric and adult expertise in vEDS in London are presented.

Presented by Prof Bart Loeys, Clinical Geneticist, Center for Medical Genetics, Antwerp University Hospital, Antwerp, Belgium.

In this video, the various types of TGF-beta vasculopathies or syndromic aortopathies causing medium-sized artery disease are discussed including, among others, Loeys-Dietz syndrome (LDS), Shprintzen-Goldberg syndrome, and arterial tortuosity syndrome. The genes of LDS and the genes of other syndromic aortopathies are examined in regards to their association with arterial involvement.

Presented by Dr. Neeti Ghali, Consultant Clinical Geneticist and Cooperating Guest from the EDS National Diagnostic Services in London, UK.

Arterial fragility seen in other types of EDS is discussed in three videos. This is part 3 of 3, which examines periodontal EDS as well as the need for constant revision of gene variant calling in order to reclassify patients’ previous variants of uncertain significance (VUS) to likely pathogenic or pathogenic variants as more cases are discovered and fulfill the criteria for classical EDS.

Presented by Dr. Neeti Ghali, Consultant Clinical Geneticist and Cooperating Guest from the EDS National Diagnostic Services in London, UK.

Arterial fragility seen in other types of EDS is discussed in three videos. This is part 2 of 3, which examines the clinical and genetic features of kyphoscoliotic EDS, which shows phenotypic overlap with both classical and vascular EDS.

Presented by Dr. Neeti Ghali, Consultant Clinical Geneticist and Cooperating Guest from the EDS National Diagnostic Services in London, UK.

Arterial fragility seen in other types of EDS is discussed in three videos. This is part 1 of 3, which examines the clinical and genetic features of classical EDS, including its association with arterial complications in some cases.

This PoK video gives an overview of acute aortic syndrome (AAS), a term which includes aortic dissection (accounting for 80% if AAS cases), intramural hematoma (IMH; 15% of AAS cases), and penetrating aortic ulcer (5% of AAS cases). The methods for classification and diagnosis, the imaging techniques used as well as the types of surgery and medical treatments recommended for AAS are also detailed.

Presented by Dr. Leema Robert, Consultant Clinical Geneticist, Guys and St. Thomas Hospital , London, UK.

Following the video “pregnancy in vascular EDS (vEDS) syndrome”, this video looks at the current literature regarding the question of whether in vitro fertilization is safe in vEDS patients. The possible risks involved with ovarian stimulation as well as the topics of in vitro maturation (IVM) and pre-implantation genetic diagnosis are explored. Recommendations from the VASCERN MSA-WG are given.

This PoK discusses chronic aortic dissection, including its diagnosis and management. The physical and psychological aspects to consider in patients who have experienced an aortic dissection are noted. The follow-up and possible complications after aortic dissection that can occur are also listed.

Presented by Dr. Leema Robert, Consultant Clinical Geneticist, Guys and St. Thomas Hospital , London, UK.

Dr. Leema Robert, MSA-WG Chair, explores several cases of women with vascular EDS and three population studies in order to make conclusions and recommendations regarding pregnancy in vascular EDS patients. The recent European Society of Cardiology (ESC) guidelines are also briefly mentioned.

This PoK gives an overview of the anatomy of the aorta as well as the imaging techniques used to visualize the aorta. These techniques, used to monitor the aorta in HTAD patients, are detailed and their special features are given. A very good overview for anyone wishing to learn more about the imaging techniques used for the monitoring and follow-up of HTAD patients.

Presented by Dr. Michael Frank, Cardiologist, Rare Vascular Disease Reference Centre, Assistance Publique-Hôpitaux de Paris, Hôpital Européen, Georges Pompidou (HEGP), Paris, France.

This video (part 3 of 3) discussed the primary objectives of vEDS patient management and monitoring as well as the need for a dedicated multidisciplinary care team that has experience in vEDS. Current medical treatments for vEDS are also presented.

This PoK video presents the basics of surgical reconstruction of the aortic root. The aorta and its main complications are first briefly explained, followed by the guidelines used to indicate prophylactic surgery in HTAD patients. The two main surgical techniques – aortic root replacement (ARR) and valve sparing root replacement (VSRR) are then detailed.

This PoK video presented by Professor Jolien Roos-Hesselink and Dr. Yaso Emmanuel gives a comprehensive overview of the issues to consider for patients with HTAD considering pregnancy. The main considerations include risk of recurrence, risk of an aortic event (during pregnancy/delivery), risks to the foetus, risks of the medications used during pregnancy and risks of further progressive disease in the mother. Appropriate advice for each patient will need to be individualized, according to each patient’s circumstances and medical history, which is why HTAD patients should talk to their cardiologist when they are considering pregnancy.

Presented by Dr. Michael Frank, Cardiologist, Rare Vascular Disease Reference Centre, Assistance Publique-Hôpitaux de Paris, Hôpital Européen, Georges Pompidou (HEGP), Paris, France.

This video (part 2 of 3) discusses natural history of vEDS from early childhood until adulthood. The most common complications seen in vEDS patients (e.g. arterial, digestive, obstetric), their frequency and their average age of onset are presented. Prognostic factors are also briefly explored.

Presented by Dr. Michael Frank, Cardiologist, Rare Vascular Disease Reference Centre, Assistance Publique-Hôpitaux de Paris, Hôpital Européen, Georges Pompidou (HEGP), Paris, France.

This video (part 1 of 3) discusses the clinical characteristic features and the diagnostic criteria of vascular Ehlers-Danlos syndrome (vEDS).

This PoK video presents the seven signs of Marfan syndrome in a clear and understandeable manner. It can help anyone who suspects that they may have Marfan syndrome to assess their probability of having this rare disease, using a simple scoring system. This is not a tool for self-diagnosis, but if you have one or more of these signs you may wish to consider consulting with a Marfan syndrome specialist who will be able to give you more information and either confirm or rule out a diagnosis of Marfan syndrome.

Presented by by Dr. Ingrid van de Laar, Clinical geneticist, Erasmus Medical Center, Rotterdam, The Netherlands.

The Genetics of vascular Ehlers-Danlos syndrome (vEDS) are explored in three videos. In this video, part 3 of 3 – Pathogenic variants in COL3A1: haplo-insufficiency, the pathogenic variants in the COL3A1 gene that lead to haplo-insufficiency (i.e. only half of the protein being formed) are discussed. The genotype/phenotype correlation associated with this type of variants is presented.

This video, made by European Patient Advocacy Group (ePAG) members of VASCERN’s Heritable Thoracic Aortic Diseases Working Group, explains the role of patient advocates in the European Reference Networks.

Video in English. Subtitles available in 4 European languages (Dutch, English, French and Hungarian).

Presented by by Dr. Ingrid van de Laar, Clinical geneticist, Erasmus Medical Center, Rotterdam, The Netherlands.

The Genetics of vascular Ehlers-Danlos syndrome (vEDS) are explored in three videos. In this video, part 2 of 3 – Pathogenic variants in COL3A1: dominant negative effect, the pathogenic variants in the COL3A1 gene that lead to a “dominant negative effect” (i.e. which results in an altered gene product affecting the function of the normal protein) are discussed (i.e. glycine substitutions within the triple helix and splice-site variants, in-frame insertions/deletions/duplications). The genotype/phenotype correlation associated with each type of variant is also introduced.

Created by Prof. Julie De Backer (Cardiologist, Ghent University Hospital, Ghent, Belgium).

This Pill of knowledge (PoK) talks about the group of vascular diseases known as Heritable Thoracic Aortic Diseases. Both syndromic and non-syndromic forms are described and the genetics of HTAD are also explored. It is suitable for healthcare professionals and anyone wishing to learn more about HTAD.

Video in English. Subtitles in 7 European languages (English, French, Dutch, Italian, Spanish, Hungarian and Swedish).

Presented by by Dr. Ingrid van de Laar, Clinical geneticist, Erasmus Medical Center, Rotterdam, The Netherlands.

The Genetics of vascular Ehlers-Danlos syndrome (vEDS) are explored in three videos. In this video, part 1 of 3 – Pathogenic variants in COL3A1 – The gene COL3A1, which is found to be mutated in most patients with vEDS, is presented and explanations are given on how it encodes an important component of the collagen fibers. The types of molecular genetic testing for variants in the COL3A1 gene are also briefly covered.

Created by Prof. Guillaume Jondeau (Cardiologue, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat-Claude Bernard, Paris, France).

This Pill of knowledge talks about how physical activity is beneficial for Marfan syndrome patients and the types of sports that are adapted for these patients and which to avoid. It is meant for patients and gives clear and simple explanations for why certain sports are well tolerated in Marfan patients and others are not.

Video in French. Subtitles available in 7 European languages (English, French, Dutch, Italian, Spanish, Hungarian and Swedish).

Created by Prof. Guillaume Jondeau (Cardiologist, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat-Claude Bernard, Paris, France) and Lise Murphy (European Patient Advocacy Group (ePAG) Patient Advocate Co-Chair for HTAD, Svenska Marfanföreningen, Sweden).

This Pill of Knowledge (PoK) features a conversation between a patient and doctor about the importance of physical activity and what exercise is suitable for patients with Marfan syndrome. It aims to encourage Marfan syndrome patients to participate in a suitable form of exercise 3 times a week. This message will be further shared via the 3 a week campaign.

Video in English subtitles available in 7 European languages (English, French, Dutch, Italian, Spanish, Hungarian and Swedish).

Presented by Dr. Salma Adham (Vascular Physician, Rare Vascular Disease Reference Centre, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou (HEGP), Paris, France).

This Pill of knowledge (PoK) gives a thorough overview of the gastrointestinal complications associated with vascular Ehlers-Danlos Syndrome (vEDS).  It details the first digestive complications most frequently encountered in vEDS patients and is directed towards healthcare professionals and the scientific community. Scientific data on this subject is equally presented.

Video in English. Subtitles available in 5 European languages (English, French, German, Italian and Dutch).

Presented by Dr. Michael Frank (Cardiologist, Rare Vascular Disease Reference Centre, Assistance Publique-Hôpitaux de Paris, Hôpital Européen – Georges Pompidou (HEGP), Paris, France).

In this Pill of knowledge (PoK), Dr. Michael Frank gives a complete overview of the arterial complications associated with Vascular Ehlers-Danlos Syndrome (vEDS) and the most common treatment for each type of complication. This PoK is meant educate healthcare professionals who are not yet familiar with vEDS in order for them to be aware of the complications that occur in these patients.

Video in English. Subtitles available in 4 European languages (English, French, Italian and Dutch).

Presented by Juergen Grunert (President Deutsche Ehlers-Danlos Initiative e.V.) and Charissa Frank (President bindweefsel.be, ePAG Medium Sized Arteries Working Group (MSA-WG)).

In this Pill of Knowledge (PoK), our ePAG patient advocates for the Medium-Sized working group (MSA-WG) talk about vascular Ehlers-Danlos syndrome (vEDS) from a patient’s perspective. Their conversation covers both the unmet needs of vEDS patients and how the VASCERN MSA-WG is working to fulfill these needs (e.g. via educational materials, patient pathways and Do’s and Don’ts factsheets). It is directed towards patients, healthcare professionals and the general public in order to raise awareness for this rare vascular disease.

Video in English. Subtitles available in 5 European languages (English, French, German, Italian and Dutch).

Marfan Syndrome -Diagnosis by HTAD-WG Chair Prof Julie De Backer (Cardiologist, Ghent University Hospital, Ghent, Belgium).

This PoK gives an overview of the diagnosis of Marfan syndrome with its main clinical manifestations and diagnostic criteria described. The genetics of this rare disease are also briefly outlined in a clear and comprehensible manner. This video is a great introduction to Marfan syndrome that is suitable for both the general public and the medical community.

Video in English. Subtitles available in 7 European languages (English, French, Dutch, German, Italian, Spanish and Hungarian).

Caruana M, Baars MJ, Bashiardes E, Benke K, Björck E, Codreanu A, de Moya Rubio E, Dumfarth J, Evangelista A, Groenink M, Kallenbach K, Kempers M, Keravnou A, Loeys B, Muiño-Mosquera L, Nagy E, Milleron O, Nistri S, Pepe G, Roos-Hesselink J, Szabolcs Z, Teixidó-Tura G, Timmermans J, Van de Laar I, van Kimmenade R, Verstraeten A, Von Kodolitsch Y, De Backer J, Jondeau G. HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN. Eur J Med Genet. 2023 Jan;66(1):104673. doi: 10.1016/j.ejmg.2022.104673. Epub 2022 Nov 29. PMID: 36460281.

Devoogdt N, Van Zanten M, Damstra R, Van Duinen K, Dickinson-Blok JL, Thomis S, Giacalone G, Belva F, Suominen S, Kavola H, Oberlin M, Rossler J, Rucigaj TP, Riches K, Mansour S, Gordon K, Vignes S, Keeley V. Paediatric lymphoedema: An audit of patients seen by the paediatric and primary lymphoedema group of vascular European Reference Network (VASCERN). Eur J Med Genet. 2022 Dec;65(12):104641. doi: 10.1016/j.ejmg.2022.104641. Epub 2022 Oct 13. PMID: 36243335.

Kempers MJ, Wessels M, Van Berendoncks A, van de Laar IM, de Leeuw N, Loeys B. Phenotype of COL3A1/COL5A2 deletion patients. Eur J Med Genet. 2022 Oct;65(10):104593. doi: 10.1016/j.ejmg.2022.104593. Epub 2022 Aug 11. PMID: 35964930.

van de Laar IMBH, Baas AF, De Backer J, Blankenstein JD, Dulfer E, Helderman-van den Enden ATJM, Houweling AC, Kempers MJ, Loeys B, Malfait F, Robert L, Tanteles G, Frank M. Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN). Eur J Med Genet. 2022 Sep;65(9):104557. doi: 10.1016/j.ejmg.2022.104557. Epub 2022 Jun 30. PMID: 35779834.

Boon L.M, Dekeuleneer V, Coulie J, Marot L, Bataille A.C, Hammer F, Clapuyt P, Jeanjean A, Dompmartin A, Vikkula M. Case report study of thalidomide therapy in 18 patients with severe arteriovenous malformations. Nat Cardiovasc Res 1, 562–567 (2022). https://doi.org/10.1038/s44161-022-00080-2

Diociaiuti A, Baselga E, Boon LM, Dompmartin A, Dvorakova V, El Hachem M, Gasparella P, Haxhija E, Ghaffarpour N, Kyrklund K, Irvine AD, Kapp FG, Rößler J, Salminen P, van den Bosch C, van der Vleuten C, Kool LS, Vikkula M. The VASCERN-VASCA working group diagnostic and management pathways for severe and/or rare infantile hemangiomas. Eur J Med Genet. 2022 Jun;65(6):104517. doi: 10.1016/j.ejmg.2022.104517. Epub 2022 Apr 27. PMID: 35487416.

Devoogdt N, Partsch H, Heroes AK, De Vrieze T, De Groef A, Geraerts I, Damstra RJ, Hafner J, Keeley V, Becker A, Mosti G, Brouwer E, Thomis S. The ICC Compression Questionnaire: A Comprehensive Tool to Evaluate Compression Materials or Devices Applied in Subjects with Lymphedema or Chronic Venous Disease. Lymphat Res Biol. 2022 Apr;20(2):191-202. doi: 10.1089/lrb.2020.0125. Epub 2021 Mar 30. PMID: 33781091; PMCID: PMC9081015.

Created by Carina Mainka (ePAG patient advocate for the PPL WG and representative of KIF11 Kids e.V.) and validated by members of the Pediatric and Primary Lymphedema Working Group (PPL WG).

Carina presents the importance of genetic testing and receiving proper genetic counselling when primary lymphedema is diagnosed in a family and how reaching out to a patient association can be of great support.

Video in German. Subtitles available in German, English, French, Portuguese, Swedish, Norwegian, Finnish, Italian, Slovenian, Spanish, Dutch and Danish.

Brouillard P, Witte MH, Erickson RP, Damstra RJ, Becker C, Quéré I, Vikkula M. Primary lymphoedema. Nat Rev Dis Primers. 2021 Oct 21;7(1):77. doi: 10.1038/s41572-021-00309-7. PMID: 34675250.

Holm A, Te Loo M, Schultze Kool L, Salminen P, Celis V, Baselga E, Duignan S, Dvorakova V, Irvine AD, Boon LM, Vikkula M, Ghaffarpour N, Niemeyer CM, Rössler J, Kapp FG. Efficacy of Sirolimus in Patients Requiring Tracheostomy for Life-Threatening Lymphatic Malformation of the Head and Neck: A Report From the European Reference Network. Front Pediatr. 2021 Sep 30;9:697960. doi: 10.3389/fped.2021.697960. PMID: 34660476; PMCID: PMC8515018.

This webinar on “Infection and Lymphedema” includes an informative presentation followed by a Q&A session, featuring questions collected from the Pediatric and Primary Lymphedema (PPL) patient community.

Featuring PPL Working Group members: Dr. Kirsten van Duinen, Dr. Tanja Planinšek Ručigaj, Manuela Lourenço Marques (ePAG Deputy Co-Chair for PPL) and Pernille Henriksen (ePAG Co-Chair for PPL).

Please also refer to the accompanying document: Cellulitis Flowchart for Patients with Lymphedema

Rössler J, Baselga E, Davila V, Celis V, Diociaiuti A, El Hachem M, Mestre S, Haeberli D, Prokop A, Hanke C, Loichinger W, Quéré I, Baumgartner I, Niemeyer CM, Kapp FG. Severe adverse events during sirolimus “off-label” therapy for vascular anomalies. Pediatr Blood Cancer. 2021 Aug;68(8):e28936. doi: 10.1002/pbc.28936. Epub 2021 Feb 13. PMID: 33580918.

Van Damme A, Seront E, Dekeuleneer V, Boon LM, Vikkula M. New and Emerging Targeted Therapies for Vascular Malformations. Am J Clin Dermatol. 2020 Oct;21(5):657-668. doi: 10.1007/s40257-020-00528-w. PMID: 32557381.

Gordon K, Varney R, Keeley V, Riches K, Jeffery S, Van Zanten M, Mortimer P, Ostergaard P, Mansour S. Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis. J Med Genet. 2020 Oct;57(10):653-659. doi: 10.1136/jmedgenet-2019-106084. Epub 2020 May 14. PMID: 32409509; PMCID: PMC7525776.

Léauté-Labrèze C, Baselga Torres E, Weibel L, Boon LM, El Hachem M, van der Vleuten C, Roessler J, Troilius Rubin A. The Infantile Hemangioma Referral Score: A Validated Tool for Physicians. Pediatrics. 2020 Apr;145(4):e20191628. doi: 10.1542/peds.2019-1628. Epub 2020 Mar 11. PMID: 32161112.

Lobeek D, Bouwman FCM, Aarntzen EHJG, Molkenboer-Kuenen JDM, Flucke UE, Nguyen HL, Vikkula M, Boon LM, Klein W, Laverman P, Oyen WJG, Boerman OC, Terry SYA, Schultze Kool LJ, Rijpkema M. A Clinical Feasibility Study to Image Angiogenesis in Patients with Arteriovenous Malformations Using ⁶⁸Ga-RGD PET/CT. J Nucl Med. 2020 Feb;61(2):270-275. doi: 10.2967/jnumed.119.231167. Epub 2019 Sep 13. PMID: 31519800; PMCID: PMC7100027.

Frank M, Adham S, Seigle S, Legrand A, Mirault T, Henneton P, Albuisson J, Denarié N, Mazzella JM, Mousseaux E, Messas E, Boutouyrie P, Jeunemaitre X. Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study. J Am Coll Cardiol. 2019 Apr 23;73(15):1948-1957. doi: 10.1016/j.jacc.2019.01.058. PMID: 30999998.

Godkänt patientflödes algorithm

Created by Dr. Vaughan Keeley (Lymphedema Consultant, Derby Teaching Hospitals NHSF Trust, Derby, UK)

In this Pill of Knowledge (PoK), Dr. Vaughan Keeley gives an overview of cellulitis/erysipelas, which is a bacterial infection and a common complication in patients with Pediatric and Primary Lymphedema (PPL). He reviews the clinical presentation, diagnosis and treatment for cellulitis. This PoK is suitable for both patients and healthcare professionals.

Video in English. Subtitles available in 4 European languages (English, French, Dutch and German).

Created by Dr. Kirsten F. van Duinen (Dermatologist, Nij Smellinghe Hospital Drachten, Netherlands)

This Pill of Knowledge (PoK) introduces the therapeutic process involved in the treatment of Pediatric and Primary Lymphedema (PPL) and how compression therapy is the cornerstone of management and treatment in PPL. It is intended for healthcare professionals and patients who would like to know more about the different types of compression therapy used to manage PPL.

Video in English. Subtitles available in 4 European languages (Dutch, English, French and German).

Legrand A, Devriese M, Dupuis-Girod S, Simian C, Venisse A, Mazzella JM, Auribault K, Adham S, Frank M, Albuisson J, Jeunemaitre X. Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome. Genet Med. 2019 Jul;21(7):1568-1575. doi: 10.1038/s41436-018-0356-2. Epub 2018 Nov 26. PMID: 30474650.

The video introduces the lymphatic system and gives a brief summary on what exactly is lymphedema. Diagnosis, treatment, and complications are all explained in a clear and understandeable manner, making this video accessible to patients and the general public.

Video in English. Subtitles available in 5 European languages (English, French, Dutch, German and Finnish).

Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552. PMID: 28306229.

Demirdas S, Dulfer E, Robert L, Kempers M, van Beek D, Micha D, van Engelen BG, Hamel B, Schalkwijk J, Loeys B, Maugeri A, Voermans NC. Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients. Clin Genet. 2017 Mar;91(3):411-425. doi: 10.1111/cge.12853. Epub 2016 Nov 4. PMID: 27582382.

Fotiou E, Martin-Almedina S, Simpson MA, Lin S, Gordon K, Brice G, Atton G, Jeffery I, Rees DC, Mignot C, Vogt J, Homfray T, Snyder MP, Rockson SG, Jeffery S, Mortimer PS, Mansour S, Ostergaard P. Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. Nat Commun. 2015 Sep 3;6:8085. doi: 10.1038/ncomms9085. Erratum in: Nat Commun. 2019 Apr 26;10(1):1951. PMID: 26333996; PMCID: PMC4568316.