Pulmonary arteriovenous malformations may be the only clinical criterion present in genetically confirmed hereditary haemorrhagic telangiectasia.
retrospective_cohort · Level III
Where this comes from
- Record sourced from PubMed, PMID 35165143.
- Also identified by DOI 10.1136/thoraxjnl-2021-218332 and PMC identifier 9120382.
- Licence recorded as CC BY-NC.
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Abstract
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 <i>ACVRL1</i>, <i>ENG</i> or <i>SMAD4</i>, we found that only 104/152 (68%) met a clinical diagnosis of HHT with three Curaçao criteria. The genetic diagnostic rate was similar for patients with three (104/137, 76%) or one to two (48/71, 68%; p=0.25) criteria. Of 83 unrelated probands with PAVM(s) and genetically-confirmed HHT, 20/83 (24%) had few, if any, features of HHT. Enhanced clinical suspicion, as well as HHT genetic testing, is recommended if one or more PAVMs are present.
Medical subject headings
- Arteriovenous Malformations
- Pulmonary Veins
- Telangiectasia, Hereditary Hemorrhagic