Hereditary Hemorrhagic Telangiectasia Presenting with Asymptomatic Liver Lesions and a History of Early-onset Myocardial Infarction and Multiple Intracranial Aneurysms

Maki Sakuma; Takeshi Inagaki; Reiko Arakawa; Norihiro Kato; Takashi Okafuji

doi:10.2169/internalmedicine.9259-22

CASE REPORTS

Hereditary Hemorrhagic Telangiectasia Presenting with Asymptomatic Liver Lesions and a History of Early-onset Myocardial Infarction and Multiple Intracranial Aneurysms

Maki Sakuma, Takeshi Inagaki, Reiko Arakawa, Norihiro Kato, Takashi Okafuji

Author information

Keywords: hereditary hemorrhagic telangiectasia, Osler-Rendu-Weber disease, intrahepatic shunts, myocardial infarction, intracranial aneurysms, SMAD4

JOURNAL OPEN ACCESS

2023 Volume 62 Issue 4 Pages 553-557

DOI https://doi.org/10.2169/internalmedicine.9259-22

Browse “Advance online publication” version

Details

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder of the vasculature, characterized by epistaxis, telangiectasia and arteriovenous malformations in multiple organs. We herein report a 49-year-old woman with a history of early-onset myocardial infarction and intracranial aneurysms, in whom we incidentally detected multiple hepatic vascular abnormalities. We subsequently diagnosed her with HHT after discovering gastrointestinal telangiectases and a pulmonary arteriovenous fistula along with a history of recurrent epistaxis. Whole-exome sequencing revealed a novel pathogenic variant in SMAD4, a relatively rare causative gene for HHT. This case highlights the fact that HHT patients may present with asymptomatic liver lesions.

Corresponding author

Register with J-STAGE for free!