Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with pathogenic variants.

Background: loss of function is associated with type 2 capillary malformation-arteriovenous malformation syndrome, an autosomal dominant vascular disorder. The phenotype partially overlaps with hereditary haemorrhagic telangiectasia (HHT) due to epistaxis, telangiectases and cerebral arteriovenous malformations, but a similar liver involvement has never been described.

Methods: Members of the French HHT network reported their cases of mutation identified after an initial suspicion of HHT.