PDF(Pubmed)
Abstract：
Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant hereditary disorder characterized by recurrent spontaneous epistaxis, mucocutaneous telangiectasias, and solid organ arteriovenous malformations (AVMs). Pulmonary hypertension (PH) is an increasingly recognized complication in patients with HHT, most often precipitated by high-output heart failure in the presence of hepatic AVMs as well as pulmonary arterial hypertension in the form of a proliferative vasculopathy. The presence of PH in patients with HHT is associated with significant elevations in rates of morbidity and mortality. Additionally, there is growing recognition of a thromboembolic propensity in this population that increases the risk of chronic thromboembolic PH, posing unique clinical considerations regarding the use of anticoagulation. Patients with HHT are also at risk of PH due to disorders commonly seen in the general population, including left-sided heart and lung disease. The etiology of PH in HHT is multifaceted and complex; the diagnostic approach and treatment strategies must consider the underlying pathophysiology of HHT. This comprehensive review summarizes current knowledge of PH in HHT, detailing the pathogenesis of known etiologies, diagnostic evaluation, and suggested treatment modalities as well as emerging therapies that may be of future interest.
摘要：
遗传性出血性毛细血管扩张症（HHT）是一种罕见的常染色体显性遗传性疾病，其特征是复发性自发性鼻出血，皮肤粘膜毛细血管扩张，和实体器官动静脉畸形（AVM）。肺动脉高压（PH）是HHT患者中越来越多的并发症，最常见的是在肝AVM存在下的高输出心力衰竭以及以增生性血管病变形式的肺动脉高压。HHT患者中PH的存在与发病率和死亡率的显著升高相关。此外,越来越多的人认识到血栓栓塞倾向会增加慢性血栓栓塞性PH的风险，关于抗凝的使用提出了独特的临床考虑。由于在一般人群中常见的疾病，HHT患者也有患PH的风险。包括左侧心脏和肺部疾病。HHT中PH的病因是多方面和复杂的；诊断方法和治疗策略必须考虑HHT的潜在病理生理学。这篇全面的综述总结了HHT中PH的最新知识，详细说明已知病因的发病机理，诊断评估,以及建议的治疗方式以及未来可能感兴趣的新兴疗法。
