Death Due to Ehlers-Danlos Syndrome Type IV

Abstract

Ehlers-Danlos syndrome (EDS) represents a group of collagen connective tissue disorders characterized by joint laxity, easy bruising, and various skin manifestations. Persons with type IV EDS are at risk for gastrointestinal, uterine, and arterial rupture. Mutations in the COL3A1 gene that encodes for type III procollagen underlie the pathologic abnormalities. Forensic pathologists must be aware of this rare, autosomal-dominant connective tissue disorder. Postmortem diagnosis is possible but requires specialized testing (fibroblast culture and subsequent biochemical assays, with or without molecular studies). When the condition is diagnosed or suspected at autopsy, it is important for forensic pathologists to notify family members of this potentially lethal disorder. Three cases of type IV EDS diagnosed by forensic pathologists are presented, followed by a discussion of the disorder.