Hayato Tada, Akihiro Nomura, Masa-Aki Kawashiri, Masayuki Takamura
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引用次数: 0
Abstract
Case report: We herein report the first Japanese case of familial hypercholesterolemia (FH) caused by a specific mutation in APOE (c.500_502delTCC [p.Leu167del]). The proband was a 38-year-old man diagnosed with FH based on the clinical findings. Genetic testing revealed a rare pathogenic variant in APOE but no relevant mutation in any "FH genes," including low-density lipoprotein (LDL) receptor, proprotein convertase subtilisin/kexin type 9, apolipoprotein B, and LDL receptor adaptor protein 1. His LDL cholesterol level was well controlled by the introduction of statins, ezetimibe, and PCSK9 inhibitors. Cascade and reverse cascade screening identified his son and father as also having FH caused by this particular mutation.
期刊介绍：
Internal Medicine is an open-access online only journal published monthly by the Japanese Society of Internal Medicine.
Articles must be prepared in accordance with "The Uniform Requirements for Manuscripts Submitted to Biomedical Journals (see Annals of Internal Medicine 108: 258-265, 1988), must be contributed solely to the Internal Medicine, and become the property of the Japanese Society of Internal Medicine. Statements contained therein are the responsibility of the author(s). The Society reserves copyright and renewal on all published material and such material may not be reproduced in any form without the written permission of the Society.
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