Department of Cardiology, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands.
Department of Pulmonology, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands.
Int J Mol Sci. 2018 Oct 17;19(10):3203. doi: 10.3390/ijms19103203.
Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disease characterised by multisystemic vascular dysplasia. Heritable pulmonary arterial hypertension (HPAH) is a rare but severe complication of HHT. Both diseases can be the result of genetic mutations in and encoding for proteins involved in the transforming growth factor-beta (TGF-β) superfamily, a signalling pathway that is essential for angiogenesis. Changes within this pathway can lead to both the proliferative vasculopathy of HPAH and arteriovenous malformations seen in HHT. Clinical signs of the disease combination may not be specific but early diagnosis is important for appropriate treatment. This review describes the molecular mechanism and management of HPAH and HHT.
遗传性出血性毛细血管扩张症（HHT）是一种常染色体显性遗传性疾病，其特征为多系统血管发育不良。遗传性肺动脉高压（HPAH）是 HHT 的一种罕见但严重的并发症。这两种疾病都可能是编码转化生长因子-β（TGF-β）超家族相关蛋白的 和 基因突变的结果，该信号通路对血管生成至关重要。该通路的变化可导致 HPAH 的增殖性脉管病和 HHT 中所见的动静脉畸形。疾病组合的临床征象可能不具有特异性，但早期诊断对于适当的治疗很重要。本综述描述了 HPAH 和 HHT 的分子机制和管理。
