Large-scale clinical studies of FH have been reported from many countries, 2,7-16 but the features of FH in China are largely unknown. 17 Furthermore, the actual prevalence of FH is likely to be underestimated in the past, and the FH trait is masked by the CAD phenotype or more common risk factors without the genetically elevated cholesterol levels.3 Hence, the aim of present study was to investigate patients with FH phenotype and further provide molecular data on mutations for patients with FH in the Division of Dyslipidemia of Fu Wai Hospital, the only national center of dyslipidemia in China.© 2016 American Heart Association, Inc. Objective-Familial hypercholesterolemia (FH) is characterized by an elevated low-density lipoprotein cholesterol and increased risk of premature coronary artery disease. However, the general picture and mutational spectrum of FH in China are far from recognized, representing a missed opportunity for the investigation. Approach and Results-A total of 8050 patients undergoing coronary angiography were enrolled. The diagnosis of clinical FH was made using Dutch Lipid Clinic Network criteria, and the information of relatives was obtained by inquiring for the probands or from their own medical records of certain clinics/hospitals. Molecular analysis of FH was performed using target exome sequencing in LDLR (low-density lipoprotein cholesterol receptor gene), APOB (apolipoprotein B gene), and PCSK9 (proprotein convertase subtilisin/kexin type 9 gene). As a result, 3.5% of the patients with definite/ probable FH phenotype (definite 1.0% and probable 2.5%) were identified. Women FH had fewer premature coronary artery disease (women <60, or men <55 years of age) when compared with men FH (70.6% versus 82.7%; P<0.001), whereas angiographic extension of coronary artery disease was significantly increased with FH diagnosis in both men and women (P<0.001). Patterns of medication use in definite/probable FH were as follows: nontreated, 20.6%; low intensity, 6.0%; moderate intensity, 68.3%; and high intensity, 5.0%. However, none of them had achieved the lowdensity lipoprotein cholesterol <100 mg/dL. Additionally, mutational analysis was performed in 245 definite/probable FH cases, and risk variants were identified in 115 patients, giving a detection rate of 46.9%. Conclusions-We showed firsthand a common identification but poor treatment of patients with FH phenotype in Chinese coronary angiography patients. Genetic data in our FH cases might contribute to update the frequency and spectrum of Chinese FH scenarios.
Materials and MethodsMaterials and Methods are available in the online-only Data Supplement.
Results
Prevalence of FHBasic characteristics of the study population are summarized in Table 1. The mean (±SD) age of the participants was 57.2±10.5 years, of whom 68.7% were men and 83.8% were with CAD and 37.8% with pCAD (<55 years for men and <60 years for women). The mean total cholesterol and LDL-C were 165.25±50.58 and 101.54±43.63 mg/dL, respectively. In the sample, there were 1.0% def...
