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- Maki Sakuma, Takeshi Inagaki, Reiko Arakawa, Norihiro Kato, and Takashi Okafuji.
- Department of General Medicine, Center Hospital of the National Center for Global Health and Medicine, Japan.
- Intern. Med. 2023 Feb 15; 62 (4): 553557553-557.
AbstractHereditary 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.
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