Medium Sized Arteries (MSA-WG)

Diseases covered

The main condition for this group is Vascular Ehlers Danlos Syndrome, which involves the medium sized arteries and has particular features: autosomal dominant 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:

  • Spontaneous Coronary Arterial dissections (SCAD)
  • Fibromuscular dysplasia

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.

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 of complex disease(s) or condition(s) or highly specialized interventions Code/ICD/Orphacode/Group of Codes Incidence (Number of cases/year) in the EU Prevalence (in the EU)
MSA vascular Ehlers Danlos Syndrome Q79.6; ORPHA286 60-120 Suggested: 5000-10000
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