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The related main theme: A. Stroke and Cerebral vascular disorders

家族性膽固醇血症在臺灣缺血性中風病患: 從臨床與基因之觀點

Familial hyperchloesterlemia in Taiwan ischemic stroke patients: from clinical to genetic view


董欣, MD 1, 2 , 陳俊朋, MD 3 , 陳柏霖, MD 1 , 
Hsin  Tung, MD 1, 2 , Peng Jun Chen, MD 3 , ling Po Chen, MD 1 , 
1 臺中榮民總醫院 神經醫學中心
2 臺中榮民總醫院 教學部師資培育中心
3 臺中榮民總醫院 生統小組
1 Division of Epilepsy, Neurological Institute, Taichung Veterans General Hospital, Taiwan
2 Center of faculty development, Taichung Veterans General Hospital, Taiwan
3 Biostatistics Task Force of Taichung Veterans General Hospital, Taichung, Taiwan
Corresponding Author:

Hung Tzu Hsiao , PhD
臺中榮民總醫院 醫學研究部
Department of Medical Research, Taichung Veterans General Hospital, Taiwan

keywords: familial hypercholeterolemia, ischemic stroke, Next Generation Sequencing (NGS)
Abstract for original article

Familial hypercholesterolemia (FH) is associated with higher concentrations of low-density lipoprotein (LDL) cholesterol since young. It is the most common genetic cause of ischemic heart disease, with the estimated prevalence around 1:220. LDLR, APOB, and PCSK9 are the most common genes related to FM. Higher LDL levels has also been reported to be related to higher risk of ischemic stroke. However, the relationship between such pathological variants and the ischemic stroke has not been well identified.

We recruited ischemic stroke patients, including transient ischemic attack, who had been hospitlalized into our neurological ward of our hospital since Dec, 2018 to Nov, 2019. They were divided into two groups according to the LDL levels, which were first checked after this hospitalization. Genetic mutation was surveyed in patients in "high-LDL" group (LDL>130 mg/dl) using genetic panel by Next Generation Sequencing (NGS). The clinical characters were compared between the high-LDL and the low-LDL group, as well as the patients with and without FH genetic mutations.

Fifty-eight cases were enrolled in the high-LDL group, and 63 cases were in the low-LDL group. High-LDL group showed older age, higher female percentage, less previous CVA/CAD history, and older first stroke age. We identified 6 cases carrying pathological variants, who had higher percentage of large vessel stroke type, statin use before the index stroke, previous CVA/CAD history, and thicker carotid intimal thickness than the other hypercholeterolemia patients without pathological variants.

The prevalence of FH genetic mutation is10.3% in ischemic stroke patients with hypercholesterolemia, and 5.0% among all ischemic stroke patients. It is higher compared with the general population, which is around 1%. Patients carrying mutation have higher risk of large vessel stroke type, which is reflected by the thicker intimal thickness.