Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome
Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome
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DOI：
10.1002/ajmg.c.31553
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发表时间：
2017-03-01
影响因子：
3.1
通讯作者：
Wheeldon, Nigel
中科院分区：
文献类型：
--
作者：
Byers, Peter H.;Belmont, John;Wheeldon, Nigel
血管性Ehlers-Danlos综合征（vEDS）是一种罕见的遗传性疾病，其特征在于动脉瘤、夹层和破裂、肠破裂和妊娠子宫破裂。频率估计为1/50，000 -1/200，000，由COL 3A 1的致病性变体引起，COL 3A 1编码III型前胶原的链，III型前胶原是血管壁和中空器官中的主要蛋白质。初步诊断取决于临床特征的描述，包括家族史。管理是复杂的，需要多个专家谁可以应对和管理的主要并发症。对管理层的建议摘要包括：在应用诊断之前识别COL 3A 1的致病变体，调整生活方式以最大限度地减少损伤和血管/器官破裂的风险，识别和创建护理团队，提供个性化的紧急护理计划（“血管EDS护照”），带有旅行时使用的诊断和管理计划，在卓越中心集中管理（经验）可行时，将血压维持在正常范围内，积极治疗高血压，每年通过多普勒超声、CTA（低辐射替代品）或MRA（如果可行）监测血管树。这些建议代表了一个国际专家小组的共识，该专家小组在治疗血管性EDS患者方面拥有广泛的综合经验，需要随着新信息的发展定期进行评估。(C)2017 Wiley Periodicals，Inc.
Vascular Ehlers Danlos syndrome (vEDS) is an uncommon genetic disorders characterized by arterial aneurysm, dissection and rupture, bowel rupture, and rupture of the gravid uterus. The frequency is estimated as 1/50,000-1/200,000 and results from pathogenic variants in COL3A1, which encodes the chains of type III procollagen, a major protein in vessel walls and hollow organs. Initial diagnosis depends on the recognitions of clinical features, including family history. Management is complex and requires multiple specialists who can respond to and manage the major complications. A summary of recommendations for management include: Identify causative variants in COL3A1 prior to application of diagnosis, modulate life style to minimize injury, risk of vessel/organ rupture, identify and create care team, provide individual plans for emergency care ("vascular EDS passport") with diagnosis and management plan for use when traveling, centralize management at centers of excellence (experience) when feasible, maintain blood pressure in the normal range and treat hypertension aggressively, surveillance of vascular tree by doppler ultrasound, CTA (low radiation alternatives) or MRA if feasible on an annual basis. These recommendations represent a consensus of an international group of specialists with a broad aggregate experience in the care of individuals with vascular EDS that will need to be assessed on a regular basis as new information develops. (C) 2017 Wiley Periodicals, Inc.