Prevalence and patient characteristics of familial hypercholesterolemia in a Chinese population aged 35-75 years: Results from China PEACE Million Persons Project

Abstract

Background and aims: Familial hypercholesterolemia (FH) is a genetic disorder with a high burden of arteriosclerotic cardiovascular disease. The prevalence of heterozygous FH is currently 0.2%-0.5% in Europe, while no such data has yet been published about the general population in China. We aimed to investigate the prevalence and characteristics of FH in a Chinese population aged 35-75 years.

Methods: We used a nationwide general population from 31 provinces in mainland China (n = 1,059,936, age 35-75) based on the China PEACE (Patient-centered Evaluative Assessment of Cardiac Events) MPP (Million Persons Project). The diagnosis of FH was based on 2 (untreated LDL-C ≥4.7 mmol/L and first-degree relatives with premature ASCVD history) of the 3 diagnostic criteria from the Chinese expert consensus on diagnosis of FH (CEFH criteria). FH prevalence was estimated and clinical phenotypic characteristics were further analyzed.

Results: The overall FH prevalence was 0.13% (95% confidence interval [CI], 0.12-0.14) by the CEFH criteria, and age and sex standardized FH prevalence was slightly lower (0.11%; 95%CI, 0.10-0.12). FH prevalence in female was twice as high as in male (0.16% vs. 0.08%, p < 0.001). Across different age groups, the prevalence also varied and peaked among 55-to 64-year-olds. Regarding geographical areas, the prevalence ranged from 0.19% in Eastern, to 0.11% in Central, and 0.08% in Western China (p < 0.001). Participants living in rural areas had a lower prevalence than urban participants (0.10% vs. 0.18%, p < 0.001). The rate of coronary artery disease in FH patients was 5 folds higher than in the general population (10.5% vs. 2.1%, p < 0.001). The rate of FH patients receiving lipid-lowering medications was 18.1%. None of the treated patients achieved guideline recommended LDL-C targets.

Conclusions: The prevalence of FH in the Chinese population aged 35-75 years was 0.13% (about 1 in 769) defined by 2 of the CEFH criteria, and the patients were seriously undertreated and under-controlled. The screened FH prevalence varied by age, sex, geographical distributions, and urban/rural areas.

Keywords: Chinese population; Familial hypercholesterolemia; Prevalence; Screening.