Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.
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DOI：
10.1056/nejm200003093421001
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发表时间：
2000-03-09
影响因子：
158.5
通讯作者：
Byers, PH
中科院分区：
文献类型：
--
作者：
Pepin, M;Schwarze, U;Byers, PH
背景：Ehlers-Danlos综合征IV型，血管型，由III型前胶原（COL 3A 1）基因突变引起。受影响的患者是在动脉，肠，子宫破裂的风险，但这些事件的发生时间，其频率和病程没有很好的documented.Methods：我们回顾了临床和家族史和医疗和手术并发症的220指数患者生化证实Ehlers-Danlos综合征IV型和199受影响的亲属。我们确定了潜在的COL 3A 1突变在135索引patients.Results：并发症是罕见的，在儿童期，25%的索引患者的第一个并发症的年龄为20岁，超过80%的至少有一个并发症的年龄为40岁。整个队列的中位生存期为48年。大多数死亡是由动脉破裂引起的。肠破裂，通常涉及乙状结肠，占并发症的四分之一，但很少导致死亡。在81名怀孕妇女中，有12名因怀孕并发症死亡。并发症的类型与COL 3A 1的特异性突变无关。结论：尽管大多数患者在第一次和第二次主要并发症后存活，但Ehlers-Danlos综合征IV型导致过早死亡。在因妊娠期子宫破裂或动脉或内脏破裂而就医的年轻人中应考虑诊断。（N Engl J Med 2000;342：673-80.）（C）2000年，马萨诸塞州医学会。
Background: Ehlers-Danlos syndrome type IV, the vascular type, results from mutations in the gene for type III procollagen (COL3A1). Affected patients are at risk for arterial, bowel, and uterine rupture, but the timing of these events, their frequency, and the course of the disease are not well documented.Methods: We reviewed the clinical and family histories of and medical and surgical complications in 220 index patients with biochemically confirmed Ehlers-Danlos syndrome type IV and 199 of their affected relatives. We identified the underlying COL3A1 mutation in 135 index patients.Results: Complications were rare in childhood; 25 percent of the index patients had a first complication by the age of 20 years, and more than 80 percent had had at least one complication by the age of 40. The calculated median survival of the entire cohort was 48 years. Most deaths resulted from arterial rupture. Bowel rupture, which often involved the sigmoid colon, accounted for about a quarter of complications but rarely led to death. Complications of pregnancy led to death in 12 of the 81 women who became pregnant. The types of complications were not associated with specific mutations in COL3A1.Conclusions: Although most affected patients survive the first and second major complications, Ehlers-Danlos syndrome type IV results in premature death. The diagnosis should be considered in young people who come to medical attention because of uterine rupture during pregnancy or arterial or visceral rupture. (N Engl J Med 2000;342:673-80.) (C)2000, Massachusetts Medical Society.