Pills of Knowledge (PoK)
Pills of Knowledge (PoK) 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).
All Pills of Knowledge by the Medium-Sized Arteries Working Group (MSA-WG) can be found at the MSA-WG Playlist here
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.
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.
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.
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.
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.
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).
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.
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.
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.
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).