CASE REPORT article
Front. Cardiovasc. Med.
Sec. Lipids in Cardiovascular Disease
Volume 12 - 2025 | doi: 10.3389/fcvm.2025.1573543
This article is part of the Research TopicCase Reports in Lipids in Cardiovascular Disease: 2025View all articles
Familial hypercholesterolaemia with early-onset coronary artery disease and recurrent in-stent restenosis associated with the LDLR gene c.428G>A mutation: A case report
Provisionally accepted
- Second Affiliated Hospital of Soochow University, Suzhou, China
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ABSTRACTBackground: Familial hypercholesterolaemia (FH) is characterised by significantly elevated low-density lipoprotein cholesterol (LDL-C) levels and early-onset coronary artery disease. Additionally, clopidogrel resistance is observed in approximately 30–50% of individuals globally. Among FH patients with early-onset coronary artery disease, inadequate LDL-C management and suboptimal antiplatelet therapy after stent implantation are key factors contributing to recurrent in-stent restenosis (ISR).Case presentation: A 52-year-old male presented with unstable angina due to recurrent chest pain. Coronary angiography confirmed coronary artery disease, and a stent was placed in the right coronary artery. Despite receiving standard antiplatelet and lipid-lowering therapy, his LDL-C levels remained poorly controlled, and chest pain recurred. At ages 62 and 65 years, he developed ISR with additional coronary artery lesions, necessitating balloon angioplasty. FH gene sequencing and clopidogrel resistance testing were subsequently performed. Based on these findings, his antiplatelet and lipid-lowering therapies were adjusted. Follow-up revealed that his LDL-C levels reached target values, and he remained asymptomatic. One year later, coronary angiography showed no disease progression, and the patient experienced no recurrence of chest pain. This case highlights the efficacy of precision treatment .Conclusions：For FH patients with early-onset CAD who are intolerant to ticagrelor, early implementation of FH genetic sequencing and clopidogrel genotyping is critical for personalised treatment.
Keywords: Familial Hypercholesterolaemia, LDL receptor gene mutation, Early-onset coronary artery disease, Recurrent in-stent restenosis, PCSK9 inhibitors, precision medicine
Received: 09 Feb 2025; Accepted: 20 May 2025.
Copyright: © 2025 Zhang, Li, Zhang, Huang and Zhu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Jing Zhu, Second Affiliated Hospital of Soochow University, Suzhou, China
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