Hereditary haemorrhagic telangiectasia: A primer for the paediatrician

Yoshua Selvadurai; Emily R Le Fevre; Jonathan Mervis; Dominic A Fitzgerald

doi:10.1016/j.prrv.2024.07.003

Hereditary haemorrhagic telangiectasia: A primer for the paediatrician

Paediatr Respir Rev. 2024 Aug 2:S1526-0542(24)00057-5. doi: 10.1016/j.prrv.2024.07.003. Online ahead of print.

Authors

Yoshua Selvadurai¹, Emily R Le Fevre², Jonathan Mervis³, Dominic A Fitzgerald⁴

Affiliations

¹ Department of Surgery, Gosford Hospital, Central Coast Local Health District, Holden Street, Gosford, NSW 2250, Australia.
² Department of Respiratory Medicine, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, New South Wales 2145, Australia. Electronic address: [email protected].
³ Heart Centre for Children, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, New South Wales 2145, Australia.
⁴ Department of Respiratory Medicine, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, New South Wales 2145, Australia; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales 2145, Australia.

PMID: 39214822
DOI: 10.1016/j.prrv.2024.07.003

Abstract

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant condition characterised by small telangiectasias and larger multisystem arteriovenous malformations (AVMs). Common sites of AVMs include in the nose, lungs, brain and liver. These lesions are prone to rupture, leading to complications including recurrent epistaxis and significant haemorrhage. Pulmonary hypertension (PH) can also occur. This review presents an update on the genetics, clinical manifestations, management options, and screening recommendations for children with HHT.

Keywords: Arteriovenous malformations [AVM]; Children; Hereditary haemorrhagic telangiectasia [HHT]; Pulmonary hypertension.

Publication types

Review