The First Japanese Case of Familial Hypercholesterolemia Caused by an APOE p.Leu167del Mutation: A Case Report.

IF 1 4区医学 Q3 MEDICINE, GENERAL & INTERNAL

Internal Medicine Pub Date : 2024-11-21 DOI:10.2169/internalmedicine.4545-24

Hayato Tada, Akihiro Nomura, Masa-Aki Kawashiri, Masayuki Takamura

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.

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日本首例由 APOE p.Leu167del 突变引起的家族性高胆固醇血症：病例报告。

病例报告：我们在此报告了日本首例由 APOE 特异性突变（c.500_502delTCC [p.Leu167del]）引起的家族性高胆固醇血症（FH）病例。原告是一名 38 岁的男性，根据临床表现被诊断为 FH。基因检测发现了 APOE 的罕见致病变异，但低密度脂蛋白（LDL）受体、9 型丙蛋白转化酶亚基酶/kexin、脂蛋白 B 和低密度脂蛋白受体适配蛋白 1 等任何 "FH 基因 "都没有相关突变。级联和反向级联筛选发现，他的儿子和父亲也患有由这种特殊突变引起的房颤。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Internal Medicine 医学-医学：内科

CiteScore

1.90

自引率

8.30%

发文量

审稿时长

2.2 months

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.