Prevalence of familial hypercholesterolemia and its association with coronary artery disease:A Chinese cohort study

Background:Familial hypercholesterolemia(FH)is underrecognized,and its association with coronary artery disease(CAD)remains limited,especially in China.We aimed to investigate the prevalence of FH and its relationship with CAD in a large Chinese cohort.Methods:FH was defined using the Make Early Diagnosis to Prevent Early Death(MEDPED)criteria.The crude and age-sex standardized prevalence of FH were calculated based on surveys of the Prediction for Atherosclerotic Cardiovascular Disease Risk in China(China-PAR)project during 2007−2008.The associations of FH with incident CAD and its major subtypes were estimated with the cohort-stratified multivariate Cox proportional hazard models based on the data from the baseline to the last follow-up(2018−2020).Results:Among 98,885 included participants,190 participants were defined as FH.Crude and age−sex standardized prevalence and 95%confidence interval(CI)of FH were 0.19%(0.17%-0.22%)and 0.13%(0.10%-0.16%),respectively.The prevalence varied across age groups and peaked in the group of 60-<70 years(0.28%),and the peak prevalence(0.18%)in males was earlier,yet lower than the peak crude prevalence in females(0.41%).During a mean follow-up of 10.7 years,2493 cases of incident CAD were identified.After multivariate adjustment,FH patients had a 2.03-fold greater risk of developing CAD compared to non-FH participants.Conclusions:The prevalence of FH was estimated to be 0.19%in the participants,and it was associated with an elevated risk of incident CAD.Our study suggests that early screening of FH has certain public health significance for the prevention of CAD.