Pills of Knowledge
Pills of Knowledge (PoK) videos are defined as short single video lessons (of approximately 3-5 minutes long) in which an expert talks about a specific topic that has been selected and validated by the Rare Disease Working Groups (RDWGs).
You can choose from the research tool below to view the Pills of Knowledge videos by our Rare Disease Working Groups.
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:
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:
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:
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.
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).
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).
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.
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).
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.
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).
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).