Vascular ehlers-danlos syndrome Q97.6

Ehlers-Danlos Syndrome (EDS) is a heterogeneous group of hereditary connective tissue diseases whose main clinical features are overstretchability of the skin and hyperreflexia of the joints. Depending on the type of disease and the underlying gene mutations, vessels, muscles, ligaments, tendons and internal organs are also affected (Brinckmann J 2018).

So far, 19 gene mutations are known to trigger EDS. The various mutations lead to changes in the structure, production or processing of collagen or of proteins that interact with collagen. The frequency of occurrence in the population is assumed to be 1:5,000 to 1:10,000, making EDS a rare disease (orphan disease).

The very rare vascular EDS (so far type IV - prevalence: 1:50,000 to 1: 250,000) (Howard R et al. 2020) is characterized by an autosomal recessive inheritance and a deficiency of type III collagen. Mutation are detectable in one of the two COL3A1 loci mapped on chromosome 2q31 with qualitative and/or quantitative deficiency of collagen III.

Major symptoms are tissue fragility with arterial rupture at a young age, spontaneous colon perforation in the absence of intestinal disease, uterine rupture in the 3rd trimester without previous caesarean section, severe perineal tear peripartum.

Minor symptoms are: tendency to hematoma without previous trauma, even in unusual places (cheeks, back), thin translucent skin, acrogeria, early varicosis (<30 years).

Complicated and life-threatening are carotico-cavernous fistulas (CCF), as well as aneurysms of the Willisi Circulus (arteriosus) (Olubajo F et al. 2020).

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