Spontaneous sigmoid perforation and subsequent ruptured hepatic aneurysms in suspected vascular type Ehlers-Danlos syndrome: a case report and comprehensive literature review.

Abstract

Ehlers-Danlos syndrome (EDS) is an inherited disorder of collagen creation and function which can affect many organs. Surgical management of EDS spectrum remains a significant challenge for surgeons, including the vascular type of EDS (vEDS). There do not exist specific guidelines for the management of vEDS, which proves difficulty given the devastating pathology and potential outcomes. This case report emphasizes the need for further research in many areas including the need for certain screenings to identify any vascular aneurysms or dissections prior to rupture, as well as asking should there be a screen for this gene mutation in COL3A1 included at birth. Our case report is one of few reports that link the spontaneous colonic rupture that may trigger the subsequent vascular catastrophe leading to devastating mortality.