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Research Paper|Volume 13, Issue 15|pp 19339—19351

Characterization of familial hypercholesterolemia in Taiwanese ischemic stroke patients

Hsin Tung1,2,3, Hsueh-Ju Lin4, Po-Lin Chen5,6, Tsai-Jung Lu4, Pei-Pei Jhan4, Jun-Peng Chen7, Yi-Ming Chen4,8, Chen-Chin Wu3,5, Yung-Yang Lin1,9,10, Tzu-Hung Hsiao4,11,12
  • 1Institute of Clinical Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan
  • 2Center of Faculty Development, Taichung Veterans General Hospital, Taichung, Taiwan
  • 3Division of Epilepsy, Neurological Institute, Taichung Veterans General Hospital, Taichung, Taiwan
  • 4Department of Medical Research, Taichung Veterans General Hospital, Taichung, Taiwan
  • 5Division of General Neurology, Neurological Institute, Taichung Veterans General Hospital, Taichung, Taiwan
  • 6School of Medicine, National Yang-Ming Chiao Tung University, Taipei, Taiwan
  • 7Biostatistics Task Force of Taichung Veterans General Hospital, Taichung, Taiwan
  • 8Division of Allergy, Immunology and Rheumatology, Taichung Veterans General Hospital, Taichung, Taiwan
  • 9Department of Critical Care Medicine, Taipei Veterans General Hospital, Taipei, Taiwan
  • 10Institute of Brain Science, National Yang Ming Chiao Tung University, Taipei, Taiwan
  • 11Department of Public Health, Fu Jen Catholic University, New Taipei City, Taiwan
  • 12Institute of Genomics and Bioinformatics, National Chung Hsing University, Taichung, Taiwan
Received: January 25, 2021Accepted: June 29, 2021Published: July 27, 2021
https://doi.org/10.18632/aging.203320

Copyright: © 2021 Tung et al. This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

Familial hypercholesterolemia (FH) is a common genetic disorder characterized by a lifelong elevated low-density lipoprotein cholesterol (LDL-C) level. The relationship between FH and ischemic stroke is still controversial. We enrolled ischemic stroke patients prospectively in our neurological ward, and divided them into two groups according to LDL-C levels with a threshold of 130 mg/dl. Targeted sequencing was performed in all stroke patients for LDLR, APOB, and PCSK9 genes. The fifty-eight high-LDL subjects were older, prevalence of previous myocardial infarction/stroke history was lower, and the first stroke age was older compared with values in the sixty-three low-LDL cases. The prevalence of FH in Han-Chinese stroke patients was 5.0%, and was 10.3% in those with a higher LDL-C level. We identified six carriers, who had higher percentages of large vessel stroke subtype (66.7% vs. 15.4%) and transient ischemic attack (33.3% vs. 3.8%), previous myocardial infarction/stroke history (50.0% vs. 11.5%), statin use (50.0% vs. 11.5%), and increased carotid intima-media thickness (IMT) (0.9-1.2mm vs.0.7-9.0mm) compared with the other hypercholesterolemic patients without pathogenic variants. Ischemic stroke patients carrying FH pathogenic variants seemed to have a higher risk for large artery stroke and transient ischemic attack. The IMT exam could be useful to screen for FH in hypercholesterolemic stroke patients.