Emergencies in hereditary haemorrhagic telangiectasia
Emergencies in hereditary haemorrhagic telangiectasia
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DOI：
10.1093/qjmed/hci148
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发表时间：
2006-01-01
影响因子：
13.3
通讯作者：
Sabbà, C
中科院分区：
文献类型：
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作者：
Gallitelli, M;Pasculli, G;Sabbà, C
背景：遗传性出血性毛细血管扩张症（HHT）是一种系统性常染色体显性遗传性血管病。虽然临床表现为慢性致残性疾病，但血管畸形可突然导致危及生命的情况。目的：评估HHT中紧急急性并发症的频率和类型。设计：回顾性病例记录审查。方法：从2000年8月至2004年12月，我们的专业HHT中心共收治了139例确诊为HHT的患者（男性74例，女性65例，平均年龄45.5岁，范围14-77岁）。我们回顾了他们的临床文件，并记录了所有的访问急性并发症（大量鼻出血，呕血，黑便，便血，血胸，咯血，TIA/缺血性中风，出血性中风，脑脓肿）。共有93次访视可能涉及急诊科。最常见的是，病人寻求紧急医疗照顾流鼻血和消化道出血（63.4%），但也有脑，肺，心脏和liver.Discussion的疾病：急性并发症HHT并不罕见，可以是严重的和广泛的。医生应了解HHT及其主要并发症，因为及时诊断对于指导患者接受最适当的治疗至关重要，并建议筛查其亲属的内脏受累。
Background: Hereditary haemorrhagic telangiectasia (HHT) is a systemic autosomal dominant vascular disease. Although the clinical picture is that of a chronic disabling disease, vascular malformations can suddenly lead to life-threatening conditions.Aim: To assess the frequency and type of emergency acute complications in HHT.Design: Retrospective case-note review.Methods: From August 2000 to December 2004, our specialized HHT centre saw 139 patients (74 males, 65 females, mean age 45.5 years, range 14-77) with a definite diagnosis of HHT. We reviewed their clinical files and recorded all visits for acute complications (massive nosebleeds, haematemesis, melaena, haematochezia, haemothorax, haemoptysis, TIA/ischaemic stroke, haemorrhagic stroke, brain abscess).Results: Fifty patients (35.9%) had at least one acute complication. There were a total of 93 visits potentially involving the emergency department. Most commonly, patients sought urgent medical attention for nosebleeds and gastrointestinal bleeding (63.4%), but there were also disorders of the brain, lung, heart and liver.Discussion: Acute complications of HHT are not uncommon and can be severe and wide-ranging. Physicians should be aware of HHT and its major complications, as a prompt diagnosis is essential to direct patients to the most appropriate therapies, and to suggest screening for visceral involvement in their relatives.