Surgical management of vascular Ehlers-Danlos syndrome and its challenges: a case report
Surgical management of vascular Ehlers-Danlos syndrome and its challenges: a case report
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DOI：
10.4414/smw.2020.20379
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发表时间：
2020-12-05
影响因子：
2.9
通讯作者：
Abbassi, Ziad
中科院分区：
文献类型：
--
作者：
de Sousa, Francisco da Rocha;Colucci, Nicola;Abbassi, Ziad
背景：ehers - danlos综合征（EDS）是一种涉及结缔组织的罕见遗传性疾病。血管性EDS （vEDS）与III型胶原蛋白异常有关，而III型胶原蛋白是皮肤、中空器官和动脉壁的重要组成部分，可能导致致命的内脏和动脉并发症。这些患者的外科治疗具有挑战性，应限于挽救生命的手术。病例描述：我们报告一例42岁男性因左结肠动脉上升支自发性破裂而出现失血性休克。多发性腹腔血管异常的同时存在提示vEDS的诊断，后来在COL3A1基因中发现了一个具有致病意义的新错义突变，证实了vEDS的诊断。术后过程的特点是由缺血性降结肠狭窄引起的机械性肠梗阻。保守治疗的失败和众所周知的结肠穿孔的风险导致这些患者决定进行转移回肠造口术。结论：此类患者的治疗难度较大，应根据具体情况进行风险-收益评估。只要可能，应考虑微创手术。
BACKGROUND: Ehlers-Danlos syndrome (EDS) is a heterogeneous group of rare inherited diseases involving connective tissue. Vascular EDS (vEDS) is associated with abnormal type III collagen, which is an essential component of skin, hollow organs and arterial walls, and causes potentially fatal visceral and arterial complications. The surgical management of these patients is challenging and should be limited to life-saving procedures.CASE DESCRIPTION: We report a case of a 42-year-old male who presented a hemorrhagic shock due to spontaneous rupture of an ascending branch of the left colic artery. The coexisting presence of multiple abdominal vascular abnormalities suggested the diagnosis of vEDS, later confirmed by the discovery of a new missense mutation in the COL3A1 gene with pathogenic significance. The post-operative course was marked by a mechanical ileus caused by an ischemic stenosis of the descending colon. Failure of conservative management and the well-known risk of colonic perforation in these patients led to the decision to perform a diverting ileostomy.CONCLUSION: The management of these patients is difficult, and risk-benefit assessments must be made on a case-by-case basis. Less invasive procedures should be considered whenever possible.