Gaspar Daniela, Pinheiro João L, Santos Andreia, Canhoto Carolina, Simão Rosa, Pereira Raquel Barros, Pereira Jorge
General Surgery Department, Unidade Local de Saúde - Viseu Dão Lafões, Av. Rei Dom Duarte, 3504-009 Viseu, Portugal.
Clinical Academic Center of Beiras (CACB), Edifício UBImedical, Estrada Municipal 506, 6200-284 Covilhã, Portugal.
J Surg Case Rep. 2025 Jul 25;2025(7):rjaf558. doi: 10.1093/jscr/rjaf558. eCollection 2025 Jul.
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.
埃勒斯-当洛综合征(EDS)是一组遗传性结缔组织疾病,根据不同的基因突变分为13个亚型。血管型,也称为IV型,被认为是最严重的亚型,与严重并发症相关。自发性胃肠道穿孔是最常描述的消化系统并发症,大多数病例为结肠穿孔。我们报告了一例具有挑战性的EDS病例,以结肠穿孔作为该疾病的初始表现而被诊断。