Familial Hypercholesterolemia Phenotype in Chinese Patients Undergoing Coronary Angiography

• DOI: 10.1161/atvbaha.116.308456
• Publication Date: 2016-12-09T03:50:26Z
• Authors: Jian-Jun Li; Sha Li; Cheng-Gang Zhu; Na-Qiong Wu; Yan Zhang; Yuan-Lin Guo; Ying Gao; Xiao-Lin Li; Ping Qing; Chuan-Jue Cui; Rui-Xia Xu; Zheng-Wen Jiang; Jing Sun; Geng Liu; Qian Dong
• Keywords: Genetic Markers; Male; China; Anticholesteremic Agents; DNA Mutational Analysis; Cholesterol, LDL; Coronary Artery Disease; Middle Aged; Coronary Angiography; 3. Good health; Hyperlipoproteinemia Type II; 03 medical and health sciences; Phenotype; 0302 clinical medicine; Asian People; Predictive Value of Tests; Apolipoprotein B-100; Mutation; Prevalence; Humans; Female; Genetic Predisposition to Disease; Age of Onset

Familial hypercholesterolemia (FH) is characterized by an elevated low-density lipoprotein cholesterol and increased risk of premature coronary artery disease. However, the general picture mutational spectrum FH in China are far from recognized, representing a missed opportunity for investigation.A total 8050 patients undergoing angiography were enrolled. The diagnosis clinical was made using Dutch Lipid Clinic Network criteria, information relatives obtained inquiring probands or their own medical records certain clinics/hospitals. Molecular analysis performed target exome sequencing LDLR (low-density receptor gene), APOB (apolipoprotein B PCSK9 (proprotein convertase subtilisin/kexin type 9 gene). As result, 3.5% with definite/probable phenotype (definite 1.0% probable 2.5%) identified. Women had fewer disease (women <60, men <55 years age) when compared (70.6% versus 82.7%; P<0.001), whereas angiographic extension significantly both women (P<0.001). Patterns medication use as follows: nontreated, 20.6%; low intensity, 6.0%; moderate 68.3%; high 5.0%. none them achieved <100 mg/dL. Additionally, 245 cases, variants identified 115 patients, giving detection rate 46.9%.We showed firsthand common identification but poor treatment Chinese patients. Genetic data our cases might contribute to update frequency scenarios.