Prevalence of genetically defined familial hypercholesterolemia and the impact on acute myocardial infarction in Taiwanese population: A hospital-based study

Yen-Ju Chen; I-Chieh Chen; Yi-Ming Chen; Tzu-Hung Hsiao; Chia-Yi Wei; Han-Ni Chuang; Wei-Wen Lin; Ching-Heng Lin

doi:10.3389/fcvm.2022.994662

Prevalence of genetically defined familial hypercholesterolemia and the impact on acute myocardial infarction in Taiwanese population: A hospital-based study

Front Cardiovasc Med. 2022 Sep 12:9:994662. doi: 10.3389/fcvm.2022.994662. eCollection 2022.

Authors

Yen-Ju Chen^{1

2

3}, I-Chieh Chen¹, Yi-Ming Chen^{1

2

4

5}, Tzu-Hung Hsiao^{1

6

7}, Chia-Yi Wei¹, Han-Ni Chuang¹, Wei-Wen Lin^{8

9

10}, Ching-Heng Lin^{1

6

11

12

13

14}

Affiliations

¹ Department of Medical Research, Taichung Veterans General Hospital, Taichung, Taiwan.
² Division of Allergy, Immunology and Rheumatology, Department of Internal Medicine, Taichung Veterans General Hospital, Taichung, Taiwan.
³ Institute of Clinical Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
⁴ Institute of Biomedical Science and Rong Hsing Research Center for Translational Medicine, National Chung Hsing University, Taichung, Taiwan.
⁵ School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
⁶ Department of Public Health, College of Medicine, Fu Jen Catholic University, New Taipei City, Taiwan.
⁷ Institute of Genomics and Bioinformatics, National Chung Hsing University, Taichung, Taiwan.
⁸ Cardiovascular Center, Taichung Veterans General Hospital, Taichung, Taiwan.
⁹ Division of Cardiology, Department of Internal Medicine, Taichung Veterans General Hospital, Puli Branch, Nantou, Taiwan.
¹⁰ Department of Life Science, Tunghai University, Taichung, Taiwan.
¹¹ Department of Health Care Management, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan.
¹² Department of Industrial Engineering and Enterprise Information, Tunghai University, Taichung, Taiwan.
¹³ Institute of Public Health and Community Medicine Research Center, National Yang Ming Chiao Tung University, Taipei, Taiwan.
¹⁴ Department of Medical Research, China Medical University Hospital, Taichung, Taiwan.

Abstract

Background: Familial hypercholesterolemia (FH) is a common genetic disorder with markedly increased risk of coronary artery diseases (CAD), especially acute myocardial infarction (AMI). However, genetic tests for FH are not always necessary in the current diagnostic criteria of FH, which might lead to underestimation of the prevalence of FH and a lack of awareness of FH-associated CAD and AMI. We aimed to explore the prevalence of genetically defined FH in the hospital-based population and to determine the impact of FH risk variants on CAD and AMI.

Methods: The study participants were recruited between June 24, 2019 and May 12, 2021, at a medical center in Taiwan, in cooperation with the Taiwan Precision Medicine Initiative (TPMI) project. The prevalence of FH was calculated and the effects of FH pathogenic variants on CAD and AMI were analyzed by logistic regression models and shown as ORs and 95% CI.

Results: The prevalence of genetically defined FH was 1.13% in the hospital-based population in Taiwan. Highest LDL and total cholesterol levels were observed in patients with LDLR rs28942084 (LDL 219.4±55.2; total cholesterol 295.8±55.4). There was an approximately 4-fold increased risk of hyperlipidemia in subjects with the LDLR rs769446356 polymorphism (OR, 4.42; 95% CI, 1.92-10.19) and AMI in individuals with the LDLR rs730882109 polymorphism (OR, 3.79; 95% CI, 2.26-6.35), and a 2-fold increased risk of CAD in those with the LDLR rs749038326 polymorphism (OR, 2.14; 95% CI, 1.31-3.50), compared with the groups without pathogenic variants of FH.

Conclusions: The prevalence of genetically defined FH was 1.13% in the hospital-based population in Taiwan, which was higher than the rate observed in individuals with clinically defined FH. The risk of CAD and AMI was increased to varying degrees in subjects with different FH risk alleles. Close monitoring and risk stratification strategy are essential in high-risk patients with FH risk alleles to facilitate early detection and treatments.

Keywords: AMI; CAD; LDLR polymorphisms; familial hypercholesterolemia; prevalence.