Acute first onset of Ehlers-Danlos syndrome type 4 with spontaneous rupture of posterior tibial artery pseudoaneurysm

Abstract

Ehlers-Danlos syndrome type 4, the vascular type, is a rare, life-threatening inherited disorder of the connective tissue. Affected patients are at risk of arterial, bowel and uterine rupture during pregnancy. Generally, this syndrome remains undiagnosed until a sudden, acute presentation with organ rupture, and results in premature death, even if the patients survive the first and second major complications. An early diagnosis with genetic assays can help to plan the best treatment, which is often challenging due to the frailty of the arterial tissue. We report on a 28-year-old lady who presented with spontaneous rupture of a pseudoaneurysm of the posterior tibial artery.