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遗传性出血性毛细血管扩张:临床遗传学研究遗传性出血性毛细血管扩张(HHT)是一种常染色体显性疾病,累及血管壁,以鼻衄和毛细血管扩张为特征。据估计,患病率为1∶100000。我们介绍一例17岁男孩,患有肺 VAM,送来做紧急外科切除术,使症状得到彻底解除。许多医生认为 HHT 是一种轻微疾病,根据我们的经验,情况并非如
Hereditary Hemorrhagic Telangiectasia: Clinical Genetic Studies Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease that affects the vessel wall and is characterized by epistaxis and telangiectasias. It is estimated that the prevalence is 1: 100,000. We introduce a 17-year-old boy with pulmonary VAM who is sent for an emergency surgical resection to relieve the symptoms completely. Many doctors think that HHT is a minor illness, which in our experience is not the case