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：
10.1097/00006254-200008000-00004
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发表时间：
2000-03
期刊：
影响因子：
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通讯作者：
M. Pepin;U. Schwarze;A. Superti-Furga;P. Byers
中科院分区：
文献类型：
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作者：
M. Pepin;U. Schwarze;A. Superti-Furga;P. Byers
ehers - danlos综合征IV型是血管型，由III型前胶原（COL3A1）基因突变引起。受影响的患者有动脉、肠和子宫破裂的危险，但这些事件的时间、频率和病程没有很好的记录。方法回顾性分析220例经生化确诊的IV型ehers - danlos综合征患者及其199例患病亲属的临床、家族史、内科及外科并发症。我们在135例指数患者中发现了潜在的COL3A1突变。结果儿童期并发症少见；25%的患者在20岁时首次出现并发症，超过80%的患者在40岁时至少出现过一种并发症。整个队列的计算中位生存期为48年。大多数死亡是由于动脉破裂造成的。肠破裂常累及乙状结肠，约占并发症的四分之一，但很少导致死亡。81名怀孕妇女中有12人死于妊娠并发症。并发症的类型与COL3A1的特定突变无关。结论：尽管大多数患者在第一和第二主要并发症中存活，但IV型ehers - danlos综合征导致过早死亡。诊断应考虑到年轻人谁来就医，因为在怀孕期间子宫破裂或动脉或内脏破裂。
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.