Elhattabi Khalid, Benghait Hasna, Elbakouri Abdelilah, Bouali Mounir, Bensardi Fatimazahra, Fadil Abdelaziz
Departement of General Surgery, University Hospital Centre Ibn Rochd, Casablanca, Morocco.
Faculty of Medecine and Pharmacy, Hassan II University, Casablanca, Morocco.
Ann Med Surg (Lond). 2021 Oct 15;71:102948. doi: 10.1016/j.amsu.2021.102948. eCollection 2021 Nov.
Ehlers Danlos syndromes (EDS) are a group of genetic disorders, characterized by skin hyperelasticity, joint hyperlaxity and tissue weakness. Vascular EDS is rare and is differs from other types of EDS by an inconsistent acrogenic morphotype and the occurrence of severe digestive and vascular complications, which can be lifethreatening.
We report the case of a 27-year-old man with a type IV vascular Ehlers-Danlos syndrome revealed by a colonic perforation after appendectomy for peritonitis secondary to appendicitis. The etiology of the perforation remained a challenge till a genetic research was carried out for COL3A1 gene mutation, which was positive in favor of vascular Ehlers Danlos disease. Then, a totalization of the colectomy with ileorectal anastomosis was performed.
Vascular Ehlers Danlos syndrome (VEDS) is due to qualitative and quantitative abnormalities in the synthesis of type III collagen, which is a major constituent of the vessel wall, skin, joint capsules, uterus and gastrointestinal tract, particularly the colon. Colonic perforation, particularly sigmoidal perforation, is the most frequent complication in SEDV and most often precedes the molecular diagnosis. Colonic perforations are uncommon. The Hartmann procedure is a well-established surgical treatment modality, especially for emergency surgery. Given the iterative risk of colonic perforation and anastomotic leakage, preventive treatment by total colectomy with ileo-rectal anastomosis or definitive ileostomy is recommended by several authors.
SEDV is a rare pathology with a difficult diagnosis. However, it should be keeped in mind when there is any spontaneous colonic perforation in the young people.
埃勒斯-当洛综合征（EDS）是一组遗传性疾病，其特征为皮肤弹性过度、关节过度松弛和组织脆弱。血管型EDS较为罕见，与其他类型的EDS不同，其具有不一致的肢端形态类型，且会出现严重的消化和血管并发症，这些并发症可能危及生命。
我们报告一例27岁男性患者，患有IV型血管性埃勒斯-当洛综合征，因阑尾炎继发腹膜炎行阑尾切除术后出现结肠穿孔而被发现。在对COL3A1基因突变进行基因研究之前，穿孔的病因一直是个难题，基因研究结果呈阳性，支持血管性埃勒斯-当洛病的诊断。随后，进行了结肠次全切除术并回肠直肠吻合术。
血管性埃勒斯-当洛综合征（VEDS）是由于III型胶原蛋白合成的质和量异常所致，III型胶原蛋白是血管壁、皮肤、关节囊、子宫和胃肠道尤其是结肠的主要成分。结肠穿孔，尤其是乙状结肠穿孔，是SEDV中最常见的并发症，且大多在分子诊断之前出现。结肠穿孔并不常见。哈特曼手术是一种成熟的外科治疗方式，尤其是在急诊手术中。鉴于结肠穿孔和吻合口漏的反复风险，多位作者建议采用结肠次全切除术并回肠直肠吻合术或确定性回肠造口术进行预防性治疗。
SEDV是一种罕见的疾病，诊断困难。然而，当年轻人出现任何自发性结肠穿孔时，应考虑到该病。
