RT Journal Article SR Electronic T1 Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 905 OP 909 DO 10.1136/jmg-2022-109107 VO 60 IS 9 A1 Guilhem, Alexandre A1 Dupuis-Girod, Sophie A1 Espitia, Olivier A1 Rivière, Sophie A1 Seguier, Julie A1 Kerjouan, Mallorie A1 Lavigne, Christian A1 Maillard, Hélène A1 Magro, Pascal A1 Alric, Laurent A1 Lipsker, Dan A1 Parrot, Antoine A1 Leguy, Vanessa A1 Vanlemmens, Claire A1 Guibaud, Laurent A1 Vikkula, Miikka A1 Eyries, Melanie A1 Valette, Pierre-Jean A1 Giraud, Sophie YR 2023 UL http://jmg.bmj.com/content/60/9/905.abstract AB 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, radiological and genetic characteristics were analysed.Results Among 21 patients with EPHB4, 15 had a liver imaging, including 7 with HHT-like abnormalities (2 female patients and 5 male patients, ages 43–69 years). Atypical epistaxis and telangiectases were noted in two cases each. They were significantly older than the eight patients with normal imaging (median: 51 vs 20 years, p<0.0006).The main hepatic artery was dilated in all the cases (diameter: 8–11 mm). Six patients had hepatic telangiectases. All kind of shunts were described (arteriosystemic: five patients, arterioportal: two patients, portosystemic: three patients). The overall liver appearance was considered as typical of HHT in six cases.Six EPHB4 variants were classified as pathogenic and one as likely pathogenic, with no specific hot spot.Conclusion EPHB4 loss-of-function variants can be associated with HHT-like hepatic abnormalities and should be tested for atypical HHT presentations.