Pulmonary Vascular Manifestations of Hereditary Haemorrhagic Telangiectasia

Authors

• Sarah Cullivan
• Barry Kevane
• Brian McCullagh
• Terry M O'Connor
• Robin Condliffe
• Sean Gaine

Language

English

Publication Date

10-1-2024

Journal

Pulmonary Circulation

DOI

10.1002/pul2.70007

PMID

39588537

PMCID

PMC11586239

PubMedCentral® Posted Date

11-24-2024

PubMedCentral® Full Text Version

Post-print

Abstract

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant, multisystem disorder that manifests with a spectrum of disease including cardiopulmonary complications. HHT is characterised by aberrant signalling via the transforming growth factor β (TGFβ) pathway, with loss of vascular integrity, angiogenesis and vascular dysplasia. The disease has an estimated prevalence of 1 in 5000 persons and the penetrance increases with increasing age. HHT commonly presents with epistaxis and telangiectasia, while visceral arteriovenous malformations are not uncommon. Mutations in the ENG, ACVRL1 and MADH4 genes account for 97% of all HHT cases, and it is recommended that genetic tests are used in combination with the clinical Curaçao criteria to confirm the diagnosis. HHT can be complicated by significant pulmonary vascular disease including pulmonary arteriovenous malformations, pulmonary arterial hypertension and high output cardiac failure. These are associated with substantial morbidity and mortality and therefore timely diagnosis is important to mitigate complications and optimise preventative strategies. This article outlines important advances in our understanding of the pathobiology of HHT and current recommendations regarding the diagnosis and screening of HHT with a specific focus on adult patients with pulmonary vascular disease. Important therapeutic advances, novel therapies on the horizon and unmet needs are also explored.

Keywords

bevacizumab, hereditary haemorrhagic telangiectasia, pulmonary arterial hypertension, pulmonary vascular disease

Published Open-Access

yes

Recommended Citation

Cullivan, Sarah; Kevane, Barry; McCullagh, Brian; et al., "Pulmonary Vascular Manifestations of Hereditary Haemorrhagic Telangiectasia" (2024). Children’s Nutrition Research Center Staff Publications. 338.
https://digitalcommons.library.tmc.edu/staff_pub/338