Service de génétique, Centre de Référence des Maladies Vasculaires Rares, AP-HP, Hôpital Européen Georges Pompidou, Paris, France.
Paris centre de Recherche Cardiovasculaire-PARCC, INSERM, U970, Paris, France.
J Gastroenterol Hepatol. 2019 May;34(5):857-863. doi: 10.1111/jgh.14522. Epub 2018 Nov 20.
Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder due to heterozygous mutations in the COL3A1 gene with a dominant negative effect. Spontaneous bowel perforation and intra-abdominal organ rupture are common complications of vEDS. Other gastrointestinal (GI) manifestations may occur but have not been extensively characterized. We herein describe the natural history of GI events and surgery-related complications in patients with vEDS.
A retrospective review of GI events in a large cohort of molecularly proven vEDS patients was conducted, after exclusion of mild forms of the disease.
Of 133 patients, 41% had a history of GI manifestations with 112 events, mean 2.0 ± 1.3 events per patient. There was an earlier occurrence of GI events in men (P 0.008). Cumulative incidence was 58% for all patients, higher in men and in patients with splice-site variants. Recurrence of GI events was reported in more than 50% of patients. Colonic perforation was the first digestive event for 47% of patients. Of 85 GI surgeries, 37 (43%) were complicated with 43 events. Nine deaths were reported in this population.
Vascular Ehlers-Danlos syndrome is characterized not only by bowel perforation but also by a wide variety of GI complications that occur in close to half (41%) of patients. The pattern of GI fragility seems more severe in males and splice-site variants. Complications of GI surgery are common and are related with tissue fragility/friability.
血管型埃勒斯-当洛斯综合征（vEDS）是一种罕见的结缔组织疾病，由 COL3A1 基因突变引起，具有显性负效应。自发性肠穿孔和腹腔内器官破裂是 vEDS 的常见并发症。其他胃肠道（GI）表现也可能发生，但尚未广泛描述。本文描述了 vEDS 患者的 GI 事件和与手术相关并发症的自然病史。
对大量分子证实的 vEDS 患者进行了 GI 事件的回顾性研究，排除了疾病的轻度表现。
133 例患者中，41%有 GI 表现史，共发生 112 次事件，平均每位患者发生 2.0±1.3 次。男性 GI 事件发生较早（P<0.008）。所有患者的累积发生率为 58%，男性和剪接位点变异患者更高。超过 50%的患者报告 GI 事件复发。结肠穿孔是 47%患者的首发消化事件。85 例 GI 手术中，37 例（43%）出现并发症，共发生 43 次。该人群报告了 9 例死亡。
血管型埃勒斯-当洛斯综合征不仅以肠穿孔为特征，还以近一半（41%）患者发生的各种胃肠道并发症为特征。男性和剪接位点变异患者的胃肠道脆弱模式似乎更严重。GI 手术并发症很常见，与组织脆弱/易碎有关。
