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

Autor:	Sakuma M; Department of General Medicine, Center Hospital of the National Center for Global Health and Medicine, Japan., Inagaki T; Department of General Medicine, Center Hospital of the National Center for Global Health and Medicine, Japan., Arakawa R; Department of Genomic Medicine, Center Hospital of the National Center for Global Health and Medicine, Japan.; Medical Genomics Center, National Center for Global Health and Medicine, Japan., Kato N; Department of Genomic Medicine, Center Hospital of the National Center for Global Health and Medicine, Japan.; Medical Genomics Center, National Center for Global Health and Medicine, Japan., Okafuji T; Department of Radiology, Center Hospital of the National Center for Global Health and Medicine, Japan.
Jazyk:	angličtina
Zdroj:	Internal medicine (Tokyo, Japan) [Intern Med] 2023 Feb 15; Vol. 62 (4), pp. 553-557. Date of Electronic Publication: 2022 Jul 29.
DOI:	10.2169/internalmedicine.9259-22
Abstrakt:	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.
Databáze:	MEDLINE
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