Jamindar Parth, Pope Michael, Gossage James
Division of Pulmonary, Critical Care and Sleep Medicine, Augusta University Medical Center, Augusta, GA 30912, USA.
Division of Internal Medicine, Augusta University Medical Center, Augusta, GA 30912, USA.
J Clin Med. 2023 Dec 27;13(1):141. doi: 10.3390/jcm13010141.
Hereditary hemorrhagic telangiectasia (HHT) is a hereditary disease characterized by recurrent epistaxis, mucocutaneous telangiectasias, and visceral arteriovenous malformations. Multiple genetic mutations have been linked to this rare disease, including ENG, ALK1 (ACVRL1), and MADH4. Pulmonary hypertension is a potential complication of HHT, with the most common phenotypes being World Health Organization (WHO) group 1 heritable pulmonary arterial hypertension (PAH), which is typically associated with ALK1 mutation; WHO group 2 pulmonary hypertension due to high output heart failure from hepatic arteriovenous malformations and/or anemia; and WHO group 2 due to high pulmonary artery wedge pressure. There is scarce evidence to help guide treatment of heritable PAH in HHT, and observational literature suggests that patients with HHT and heritable PAH have a worse prognosis compared to patients with idiopathic PAH. We describe the diagnosis, pulmonary hemodynamics, and detailed treatment courses of three patients with ALK1-associated HHT and PAH, who all exhibited objective clinical improvement with parenteral prostacyclins and oral agents.
遗传性出血性毛细血管扩张症（HHT）是一种遗传性疾病，其特征为反复鼻出血、黏膜皮肤毛细血管扩张以及内脏动静脉畸形。多种基因突变与这种罕见疾病相关，包括ENG、ALK1（ACVRL1）和MADH4。肺动脉高压是HHT的一种潜在并发症，最常见的表型是世界卫生组织（WHO）1组遗传性肺动脉高压（PAH），其通常与ALK1突变相关；2组肺动脉高压是由于肝动静脉畸形和/或贫血导致的心输出量增加性心力衰竭；以及2组是由于肺动脉楔压升高。几乎没有证据可用于指导HHT中遗传性PAH的治疗，观察性文献表明，与特发性PAH患者相比，HHT和遗传性PAH患者的预后更差。我们描述了3例ALK1相关HHT和PAH患者的诊断、肺血流动力学及详细治疗过程，这3例患者经肠外前列环素和口服药物治疗后均表现出客观的临床改善。
