Abstract

Background and aims: Familial Hypercholesterolemia (FH) is an inherited metabolic disorder with increased LDL-C levels and coronary heart disease (CHD) risk. The prevalence of heterozygous FH is approximately 1:200 to 1:500 worldwide and higher in CHD populations. We aim to estimate the prevalence of FH and the incidence of recurrent cardiovascular events among FH and non-FH patients in a large myocardial infarction cohort in China.

Methods: We studied the cohort from the China Patient-Centered Evaluative Assessment of Cardiac Events Prospective study (PEACE-Prospective). The eligible cohort included 3367 patients hospitalized for myocardial infarction (MI).

Results: The proportion of potential FH was 0.80% and 4.28% by Dutch Lipid Clinic Network (DLCN) and modified DLCN criteria, respectively. Compared to non-FH, the FH patients were younger, having more personal and family history of premature CHD, current smokers and overweight. The exome sequencing identified 11 cases of pathogenic variants on LDL receptor and ApoB. The risk of recurrent cardiovascular events after MI was greater in FH patients with a hazard ratio (HR) of 1.97 with modified DLCN.

Conclusions: The prevalence of Chinese FH by modified DLCN is comparable to the European estimate by DLCN in the high cardiovascular risk cohort. The patients with FH compared to non-FH have an almost 2-fold adjusted risk of recurrent cardiovascular events. Further consensus on the LDL-C-based threshold may help on the establishment of country specific criteria for FH.

Keywords: Familial hypercholesterolemia; Dutch lipid clinic network criteria; Modified dutch lipid clinic network criteria