Shovlin C L
Department of Genetics, Harvard Medical School, Boston, MA, USA.
Thromb Haemost. 1997 Jul;78(1):145-50.
Vascular diseases may mimic coagulopathies by presenting as a haemorrhagic state. The archetypal example of an inherited disorder resulting in haemorrhage from dilated vessels of the microvasculature (telangiectasia) is Hereditary Haemorrhagic Telangiectasia (HHT, Rendu-Osler-Weber syndrome). This autosomal dominant disorder is characterised by haemorrhage from nasal, mucocutaneous and gastrointestinal telangiectasia, in addition to vascular anomalies in other organs, particularly in the pulmonary, hepatic and cerebral circulations. Linkage analyses have indicated there are at least three HHT loci, including the genes for endoglin on chromosome 9, and activin-like receptor kinase (ALK1) on chromosome 12. Mutations in these genes, together with recent data on the normal function of the encoded proteins highlight the role of TGF-b family members in the pathogenesis of HHT. Complimentary information from other telangiectatic states indicates potential precipitants, and indicate a critical role for TGF-beta ligand-receptor interactions in vascular homeostasis.
血管疾病可能通过表现为出血状态而类似凝血障碍。导致微血管扩张血管（毛细血管扩张）出血的遗传性疾病的典型例子是遗传性出血性毛细血管扩张症（HHT，伦杜-奥斯勒-韦伯综合征）。这种常染色体显性疾病的特征是鼻腔、黏膜皮肤和胃肠道毛细血管扩张出血，此外其他器官也存在血管异常，特别是在肺循环、肝循环和脑循环中。连锁分析表明至少有三个HHT基因座，包括9号染色体上的内皮素基因和12号染色体上的激活素样受体激酶（ALK1）。这些基因的突变，以及关于所编码蛋白质正常功能的最新数据，突出了转化生长因子-β（TGF-β）家族成员在HHT发病机制中的作用。来自其他毛细血管扩张状态的补充信息表明了潜在的诱发因素，并表明TGF-β配体-受体相互作用在血管稳态中起关键作用。
