Long Term Survival of Heritable Pulmonary Arterial Hypertension Associated with Hereditary Hemorrhagic Telangiectasia: A Case Series

被引:0
作者
Jamindar, Parth [1 ]
Pope, Michael [2 ]
Gossage, James [1 ]
机构
[1] Augusta Univ, Div Pulm Crit Care & Sleep Med, Med Ctr, Augusta, GA 30912 USA
[2] Augusta Univ, Med Ctr, Div Internal Med, Augusta, GA 30912 USA
关键词
hereditary hemorrhagic telangiectasia; pulmonary hypertension; pulmonary arterial hypertension; right heart catheterization;
D O I
10.3390/jcm13010141
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
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页数:8
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