Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants
A Guilhem, S Dupuis-Girod, O Espitia… - Journal of Medical …, 2023 - jmg.bmj.com
Background EPHB4 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 EPHB4 mutation identified after an initial suspicion of HHT. Clinical …
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 EPHB4 mutation identified after an initial suspicion of HHT. Clinical …
Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated withEPHB4pathogenic variants
A Guilhem, S Dupuis-Girod, O Espitia, S Rivière… - 2023 - dial.uclouvain.be
Background EPHB4 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 EPHB4 mutation identified after an initial suspicion of HHT. Clinical …
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 EPHB4 mutation identified after an initial suspicion of HHT. Clinical …