Clinical and genetic features of vascular Ehlers-Danlos syndrome

Vascular Ehlers-Danlos syndrome (EDS) is a rare autosomal dominant inherited disorder of connective tissue resulting from mutation of the COL3A1 gene encoding type III collagen. Affected individuals are prone to serious vascular, intestinal, and obstetrical complications. Complications are rare during infancy but occur in up to 25% of affected persons before the age of 20 and 80% before the age of 40. Median survival is 48 years. Arterial rupture accounts for most deaths. Intestinal perforation, usually involving the colon, are less fatal. Pregnancy is a high risk for women with EDS. As for many rare orphan diseases, delayed and/or improper diagnosis can lead to inadequate or inappropriate treatment and management. Diagnosis is based on clinical findings including specific facial features, thin translucent skin, propensity to bleeding, and rupture of vessels and/or viscera. Diagnosis can be confirmed either by biochemical assays showing qualitative or quantitative abnormalities in type III collagen secretion or by molecular biology studies demonstrating mutation of the COL3A1 gene. Varied molecular mechanisms have been observed with different mutations in each family. No correlation has been established between genotype and phenotype. Diagnosis should be suspected in any young person presenting with arterial or visceral rupture, carotid dissection, or colonic perforation. There are currently no specific treatments for EDS.