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

Parth Jamindar, Michael Pope, James Gossage

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Article number141
JournalJournal of Clinical Medicine
Volume13
Issue number1
DOIs
StatePublished - Jan 2024

Keywords

  • hereditary hemorrhagic telangiectasia
  • pulmonary arterial hypertension
  • pulmonary hypertension
  • right heart catheterization

ASJC Scopus subject areas

  • General Medicine

Fingerprint

Dive into the research topics of 'Long Term Survival of Heritable Pulmonary Arterial Hypertension Associated with Hereditary Hemorrhagic Telangiectasia: A Case Series'. Together they form a unique fingerprint.

Cite this