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 expertise Rare or complex disease(s) or condition(s) or highly specialized interventions Code/ICD/ Orphacode / Group of Codes

Incidence (Number of cases / year)

(in the EU)


 (in the EU)

MSA Vascular Ehlers Danlos Syndrome (vEDS) Q79.6 60-120 Suggested prevalence: 5 000 – 10 000

All HCP in the MSA-WG are covering this sub-thematic area of expertise.











Patient co-chair (ePAG)

Ehlers-Danlos-Initiative e.V., Germany





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

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).


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