CLINICAL/GENETIC MANIFESTATIONS OF HEMORRHAGIC TELANGLECTASIA

本方案的主要目的是：1）为以下方面建立登记系统 遗传性出血性毛细血管扩张症（HHT），以表征 系统的临床表现，特别是 这种疾病的表现和自然史，将这些 特定遗传缺陷的表型亚型， 在被识别的过程中; 2）确定流行的 无症状肺动静脉畸形（pAVM）患者 HHT，研究某些患者亚组或家族是否增加 pAVM的风险，并记录通常 使用筛选试验检测pAVM。

The primary aim of this protocol is to: 1) develop a registry for herediatary hemorrhagic telangiectasia (HHT) to characterize systematically the clinical presentation, the prevalance of particular manifestations and the natural history of this disorder, linking these phenotypic subtypes to particular genetic defects that have been and are in the process of being identified and; 2) to determine the prevalance of pulmonary arteriovenous malformation (pAVM) in asymptomatic patients with HHT, to study if certain patient subgroups or families are at increased risk of pAVM and to document the sensitivity and specificity of commonly used screening tests for the detection of pAVM.