Ehlers-Danlos syndrome and the risk of spontaneous colonic perforation: clinical insights and surgical implications

埃勒斯-当洛斯综合征与自发性结肠穿孔风险:临床见解和外科意义

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Abstract

Ehlers-Danlos Syndromes (EDS) are a group of genetic connective tissue disorders classified into to 13 subtypes according to different genetic mutations. The vascular subtype, also known as Type IV, is considered the most severe subtype and is associated with dire complications. Spontaneous gastrointestinal perforation is the most commonly described digestive complication, with colonic perforation accounting for most cases. We report a challenging case of EDS, diagnosed with colonic perforation as the initial presentation of the disease.

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