他汀、依折替米贝、PCSK9抑制剂和洛米他胺联合治疗低原性家族性高胆固醇血症1例。

IF 1 4区医学 Q3 MEDICINE, GENERAL & INTERNAL

Internal Medicine Pub Date : 2025-03-22 DOI:10.2169/internalmedicine.5025-24

Nobuko Kojima, Hayato Tada, Masayuki Takamura

{"title":"他汀、依折替米贝、PCSK9抑制剂和洛米他胺联合治疗低原性家族性高胆固醇血症1例。","authors":"Nobuko Kojima, Hayato Tada, Masayuki Takamura","doi":"10.2169/internalmedicine.5025-24","DOIUrl":null,"url":null,"abstract":"We encountered a 40-year-old man diagnosed with homozygous familial hypercholesterolemia (FH) based on clinical findings. The initial low-density lipoprotein (LDL)-cholesterol level was 393 mg/dL. He underwent coronary artery bypass graft (CABG) surgery for three-vessel disease. Genetic testing revealed a pathogenic variant in the LDL receptor (LDLR) and a missense variant in apolipoprotein E (APOE), known as APOE4, leading to the diagnosis of oligogenic FH. His LDL-cholesterol level was well controlled by the introduction of a proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor and lomitapide (approximately 30 mg/dL). Combination therapy is effective in reducing LDL levels.","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":""},"PeriodicalIF":1.0000,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A Case with Oligogenic Familial Hypercholesterolemia Treated by Combination Therapy of Statin, Ezetimibe, PCSK9 Inhibitor, and Lomitapide.\",\"authors\":\"Nobuko Kojima, Hayato Tada, Masayuki Takamura\",\"doi\":\"10.2169/internalmedicine.5025-24\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"We encountered a 40-year-old man diagnosed with homozygous familial hypercholesterolemia (FH) based on clinical findings. The initial low-density lipoprotein (LDL)-cholesterol level was 393 mg/dL. He underwent coronary artery bypass graft (CABG) surgery for three-vessel disease. Genetic testing revealed a pathogenic variant in the LDL receptor (LDLR) and a missense variant in apolipoprotein E (APOE), known as APOE4, leading to the diagnosis of oligogenic FH. His LDL-cholesterol level was well controlled by the introduction of a proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor and lomitapide (approximately 30 mg/dL). Combination therapy is effective in reducing LDL levels.\",\"PeriodicalId\":13719,\"journal\":{\"name\":\"Internal Medicine\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.0000,\"publicationDate\":\"2025-03-22\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Internal Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.2169/internalmedicine.5025-24\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Internal Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2169/internalmedicine.5025-24","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}

引用次数: 0

摘要

我们遇到了一个40岁的男性诊断为纯合子家族性高胆固醇血症（FH）基于临床表现。初始低密度脂蛋白(LDL)-胆固醇水平为393 mg/dL。他接受了冠状动脉旁路移植术（CABG）治疗三支血管疾病。基因检测显示低密度脂蛋白受体（LDLR）的致病性变异和载脂蛋白E （APOE4）的错义变异，导致诊断为少源性FH。他的低密度脂蛋白胆固醇水平通过引入蛋白转化酶枯草杆菌素/克辛9型（PCSK9）抑制剂和洛米他啶（约30 mg/dL）得到很好的控制。联合治疗在降低LDL水平方面是有效的。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

A Case with Oligogenic Familial Hypercholesterolemia Treated by Combination Therapy of Statin, Ezetimibe, PCSK9 Inhibitor, and Lomitapide.

We encountered a 40-year-old man diagnosed with homozygous familial hypercholesterolemia (FH) based on clinical findings. The initial low-density lipoprotein (LDL)-cholesterol level was 393 mg/dL. He underwent coronary artery bypass graft (CABG) surgery for three-vessel disease. Genetic testing revealed a pathogenic variant in the LDL receptor (LDLR) and a missense variant in apolipoprotein E (APOE), known as APOE4, leading to the diagnosis of oligogenic FH. His LDL-cholesterol level was well controlled by the introduction of a proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor and lomitapide (approximately 30 mg/dL). Combination therapy is effective in reducing LDL levels.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

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.