Successful multidisciplinary management of vascular Ehlers-Danlos syndrome.
Successful multidisciplinary management of vascular Ehlers-Danlos syndrome.
复制标题
血管埃勒斯-当洛斯综合征的成功多学科治疗。
DOI：
10.1007/s12328-021-01562-9
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发表时间：
2022
影响因子：
1
通讯作者：
Hiroshi Yoshida
中科院分区：
文献类型：
--
作者：
Shintaro Kanaka;Takeshi Yamada;Akihisa Matsuda;Goro Takahashi;Masatoku Arai;Toru Takiguchi;Hideki Tayama;Hiroshi Yoshida
血管性埃勒-丹洛斯综合征是一种罕见的结缔组织疾病，具有严重并发症的高风险。由于这些并发症，血管性埃勒-丹洛斯综合征患者的平均预期寿命估计为48岁。然而，这些并发症的最佳管理仍不清楚。一名25岁男子因腹痛被救护车送往我院。他在22岁时因首次结肠穿孔而接受了哈特曼手术。当时，基因测试揭示了col3a1的种系变异，col3a1编码III型前胶原蛋白；因此，患者被诊断为血管性埃勒-丹洛斯综合征。当患者来到我们医院时，我们怀疑是另一种结肠穿孔，因此进行了紧急手术。开腹治疗、经导管动脉栓塞和负压伤口治疗作为挽救生命的措施。值得注意的是，由于组织脆弱，血管性埃勒-丹洛斯综合征患者最初应避免这些手术。开腹治疗、经导管动脉栓塞和负压伤口治疗可能对血管性埃勒-丹洛斯综合征并发腹膜炎和大量腹腔出血的患者有用。
Vascular Ehlers–Danlos syndrome is a rare connective tissue disease with a high risk of severe complications. Because of these complications, the median life expectancy for patients with vascular Ehlers–Danlos syndrome is estimated at 48 years. However, the optimal management of these complications remains unclear. A 25-year-old man with abdominal pain was transported to our hospital by ambulance. He had undergone Hartmann’s operation at 22 years of age for a first-time colonic perforation. At that time, a genetic test revealed germline variants inCOL3A1, which encodes type III procollagen; therefore, the patient was diagnosed with vascular Ehlers–Danlos syndrome. When the patient presented to our hospital, we suspected another colonic perforation and thus performed an emergency operation. Open abdominal management, transcatheter arterial embolization, and negative-pressure wound therapy were performed as life-saving measures. Notably, these procedures should initially be avoided in patients with vascular Ehlers–Danlos syndrome because of tissue fragility. Open abdominal management, transcatheter arterial embolization, and negative-pressure wound therapy may be useful for patients with vascular Ehlers–Danlos syndrome who develop panperitonitis and massive intra-abdominal bleeding.