The MSA Working Group, is built upon Multidisciplinary Centres of Excellence that are collaborating. The MSA-WG scope includes mainly Vascular Ehlers Danlos Syndrome. It will be enlarged to the other medium sized arteries diseases in the future

 

The MSA-WG is chaired by Dr. Leema ROBERT, South East Thames Regional Genetics Service, Guy’s Hospital, London, UK. Prof. Xavier JEUNEMAITRE, CRMR Rare Vascular Diseases, CHU Paris IdF Ouest – HEGP Hôpital Européen Georges Pompidou, AP-HP, is co-chair.

The MSA-WG cooperates with the Patient-WG.

The main condition for this group is Vascular Ehlers Danlos Syndrome, which mainly involves the medium sized arteries and has particular features: autosomal inheritance with high penetrance but variable expression, early-onset of morbid complications (median age of first complications: 28 years), reduced life expectancy (around 55-60 years of age), various types of major complications: arterial but also digestive and uterine ruptures, which require specific training and medical experience (refs).

Other conditions that involve or affect the medium sized arteries include conditions such as:

Kawasaki Disease M30.3
Coronary Arterial dissections (spontaneous)
Fibromuscular dysplasia I77.3

Vascular EDS

Given the rarity of the condition, outside a small number of specialist centres worldwide, few general physicians would have enough experience to manage this group of conditions. A small of number of studies from specialist centres that have collected longitudinal and cross sectional data has clearly indicated that systematic surveillance and management of these patients with early intervention is successful. There is no consensus for best practice in surveillance, medical intervention and surgical intervention mainly because of the rarity of the condition and difficulty in collaborative analysis of clinical data.

At recent evaluation of the international EDS society with specialists in New York, it was suggested that creating or recognizing centre’s of excellence to provide expert periodic evaluation and develop standardized care for surveillance, and intervention would be extremely beneficial. A “hub and spoke” model of care with the specialist centre’s facilitating care in liaison with local care teams was advised. Web based registry for vascular EDS with frequent dialogue between clinicians at expert centre’s and local care teams to improve data collection was also recommended. Developing biomarkers for surveillance and clinical trials for medical management was also recommended.

Improving diagnosis of this group of conditions and recommending appropriate management strategies would be the main aim of this thematic subgroup. Collation of larger group of data for natural history studies, biomarkers and development of clinical trials would fall under the research strategy of this thematic subgroup.

Bases for the estimated incidence and prevalence numbers: 500 Million inhabitants within European union with about 6 million newborns annually.

Sub-thematic areas of expertiseRare of complex disease(s) or condition(s) or highly specialized interventionsCode/ICD/Orphacode/Group of codesIncidence (Number of cases/year) (in the EU)Prevalence (in the EU)
MSAVascular Ehlers Danlos Syndrome (vEDS)Q79.6; ORPHA28660-120Suggested: 5000-10 000
All HCP in the MSA-WG are covering this sub-thematic area of expertise.

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UNITED KINGDOM

Guy’s Hospital, London, UK

VASCERN MSA European Reference Centre, South East Thames Regional Genetics Service

Chair

Dr. Leema ROBERT
Consultant Clinical Geneticist

 

Dr. Yaso EMMANUEL
Consultant Cardiologist

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FRANCE

AP-HP, CHU Paris IdF Ouest, HEGP Hôpital Européen Georges Pompidou, Paris, France

VASCERN MSA European Reference Centre, Rare Vascular Diseases Reference Centre (CRMR)

Co-Chair

Dr. Michael FRANK
Consultant Cardiologist

 

Prof. Xavier JEUNEMAITRE
Geneticist

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BELGIUM

Ghent University Hospital, Ghent, Belgium

VASCERN MSA European Reference Centre, Dept of Cardiology and Center for Medical Genetics 

Pr. Julie De BACKER
Cardiologist and clinical geneticist

Dr. Fransiska MALFAIT
Clinical geneticist

University Hospital of Antwerp, Antwerp, Belgium

VASCERN MSA European Reference Centre, Center of Medical Genetics 

Pr. Bart LOEYS
Clinical cardiogeneticist

Dr. Aline VERSTRAETEN
Clinical geneticist

ePAG Deputy Co-Chair

Charissa FRANK

allemagne

GERMANY

ePAG Co-Chair

Juergen GRUNERT

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NETHERLANDS

Erasmus Medical Center, Rotterdam, The Netherlands

VASCERN MSA European Reference Centre, Department of Clinical Genetics and Cardiology

Dr. Ingrid VAN DE LAAR
Clinical Geneticist

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

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

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 diseaseCan J Cardiol. 2014 Jun;30(6):577-89.

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

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

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

Patient Pathways aim to improve the care and management of patients with a rare disease. They include the “red flags” that may lead to the suspicion of the disease, how to reach a definite diagnosis and the management and follow-up recommendations. They are a very important tool used in defining the best patient care and will be further validated and updated when needed.

The MSA Patient Pathway for Vascular Ehlers-Danlos Syndrome is available here

All Vascular Ehlers Danlos Syndrome (vEDS) Factsheets in one document:

 vEDS Do’s and Don’ts

 

 

 

Individual factsheets for each topic: 

Complications in vEDS


Peripheral arterial dissection

Abdominal emergencies

Haemoperitoneum

Arterial revascularisation

Aortic dissection

Acute coronary syndrome

Carotid cavernous fistulas

Pneumothorax

Stroke


Pregnancy, Delivery and Postpartum care


Pregnancy

Delivery

Breastfeeding


Invasive investigations and treatment of common medical emergencies in vEDS


Colonoscopy

Pulmonary embolism

Venous Thrombosis

Antiplatelet agents and anticoagulants


Exercise

Pills of Knowledge (PoK) are the deliverable for VASCERN Work Package 4 on Pills of Knowledge, 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

Unmet medical needs in vascular Ehlers-Danlos Syndrome (vEDS) – patients perspective

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

In this Pill of Knowledge (PoK), our ePAG Co-Chair and Deputy Co-Chair 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 4 European languages.

Arterial Complications of Vascular Ehlers-Danlos Syndrome (vEDS)

Created 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 3 European languages.

Gastrointestinal Complications in vascular Ehlers-Danlos Syndrome (vEDS)

Created 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 4 European languages.

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