Pulmonary arteriovenous malformations may be the only clinical criterion present in genetically confirmed hereditary haemorrhagic telangiectasia.

Pulmonary arteriovenous malformations (PAVMs) result in preventable complications demanding specialty care. Underlying hereditary haemorrhagic telangiectasia (HHT) can be identified by genetic testing, if the diagnosis is considered. Retrospectively reviewing 152 unrelated adults with genetically confirmed HHT due to

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Competing interests: The authors have no financial competing interests to declare. CLS chairs the Genomics England Respiratory GeCIP, the North Thames Genomic Medicine Service Alliance R&D Committee, the NHS Hereditary Haemorhagic Telangiectasia Rare Disease Collaborative Network and the British Thoracic Society Pulmonary AVM Clinical Statement Group; sits on the Cure HHT Global Research and Medical Advisory Board, the ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel; and chaired the European Reference Network for Rare Multisystemic Vascular Diseases HHT Working Group 2016–2020.