1. Sudden death as a result of colon perforation; Ehlers-Danlos type IV case with postmortem diagnosis
- Author
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Salih Güven, Duygu Güleş, Hasan Okumuş, Osman Celbis, Osman Kule, and Mucahit Oruc
- Subjects
Postmortem Diagnosis ,Spontaneous rupture ,Pathology ,medicine.medical_specialty ,business.industry ,Perforation (oil well) ,Autopsy ,General Medicine ,medicine.disease ,Connective tissue disease ,Sudden death ,Pathology and Forensic Medicine ,Ehlers danlos ,03 medical and health sciences ,0302 clinical medicine ,Medicine ,030216 legal & forensic medicine ,030212 general & internal medicine ,business ,Law ,Pathological - Abstract
Ehlers-Danlos Syndrome (EDS) is a connective tissue disease with heterogeneous subgroups. In type IV EDS, also known as vascular EDS (VEDS), the underlying genetic anomaly consists of a mutation of the COL3A1 gene encoding the type III procollagen. As a result of the mutation, pathological findings due to excessive brittleness of the tubular organs or vessels occur. In our case, we present a patient with sudden death due to colon perforation which was diagnosed with EDS type IV after further examination in the autopsy. Forensic medicine experts should consider the possibility of EDS type IV after the detection of spontaneous ruptures in the internal organs during the autopsy. We think that it would be appropriate to report this autosomal dominant and potentially fatal condition to family members.
- Published
- 2020