International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia
复制标题
DOI：
10.1136/jmg.2009.069013
复制
发表时间：
2011-02-01
影响因子：
4
通讯作者：
Zarrabeitia, R.
中科院分区：
文献类型：
--
作者：
Faughnan, M. E.;Palda, V. A.;Zarrabeitia, R.
背景HHT是一种常染色体显性遗传疾病，估计患病率至少为1/5000，经常并发脑、肺、胃肠道和肝脏中存在临床显著的动静脉畸形。HHT诊断不足，家庭可能不知道现有的筛查和治疗，导致儿童和成人不必要的中风和危及生命的出血。目的本国际HHT指南过程的目标是制定关于HHT诊断和预防的循证共识指南。相关并发症和有症状疾病的治疗。方法使用AGREE框架开发总体指南过程，在缺乏已发表文献的情况下，使用系统性检索策略和文献检索，并在结构化共识过程中纳入专家证据。指南工作组包括来自11个国家的HHT各方面的专家（临床和遗传学）、指南方法学家、卫生保健工作者、卫生保健管理人员、HHT诊所工作人员、医疗实习生、患者倡导代表和HHT患者。工作组在会前进程中确定了临床相关问题。使用奥维德MEDLINE数据库进行了1966年至2006年10月的文献检索。工作组随后召开的指南会议，参加了一个结构化的共识过程中使用的证据表从系统search.Results会议的结果是产生的33条建议的诊断和管理HHT，至少有80%的专家小组之间的30个33条建议的协议。
Background HHT is an autosomal dominant disease with an estimated prevalence of at least 1/5000 which can frequently be complicated by the presence of clinically significant arteriovenous malformations in the brain, lung, gastrointestinal tract and liver. HHT is under-diagnosed and families may be unaware of the available screening and treatment, leading to unnecessary stroke and life-threatening hemorrhage in children and adults.Objective The goal of this international HHT guidelines process was to develop evidence-informed consensus guidelines regarding the diagnosis of HHT and the prevention of HHT-related complications and treatment of symptomatic disease.Methods The overall guidelines process was developed using the AGREE framework, using a systematic search strategy and literature retrieval with incorporation of expert evidence in a structured consensus process where published literature was lacking. The Guidelines Working Group included experts (clinical and genetic) from eleven countries, in all aspects of HHT, guidelines methodologists, health care workers, health care administrators, HHT clinic staff, medical trainees, patient advocacy representatives and patients with HHT. The Working Group determined clinically relevant questions during the pre-conference process. The literature search was conducted using the OVID MEDLINE database, from 1966 to October 2006. The Working Group subsequently convened at the Guidelines Conference to partake in a structured consensus process using the evidence tables generated from the systematic searches.Results The outcome of the conference was the generation of 33 recommendations for the diagnosis and management of HHT, with at least 80% agreement amongst the expert panel for 30 of the 33 recommendations.