Risk stratification of patients with familial hypercholesterolemia in a multi-ethnic cohort

Heterozygous Familial hypercholesterolemia (FH) is a common autosomal dominant disorder resulting in in very high blood cholesterol levels and premature cardiovascular disease (CVD). However, there is a wide variation in the occurrence of CVD in these patients. The aim of this study is to determine risk factors that are responsible for the variability of CVD events in FH patients.

This is a retrospective analysis of a large multiethnic cohort of patients with definite FH attending the Healthy Heart Prevention Clinic in Vancouver, Canada. Cox proportional hazard regression analysis was used to assess the association of the risk factors to the hard cardiovascular outcomes.

409 patients were identified as having "definite" FH, according to the Dutch Lipid Clinic Network Criteria (DLCNC), with 111 (27%) having evidence of CVD. Male sex, family history of premature CVD, diabetes mellitus, low high density lipoprotein cholesterol (HDL-C) and high lipoprotein (a) (Lp (a)) were significant, independent risk factors for CVD. In men, family history, diabetes and low levels of HDL-C were significant risk factors while in women smoking, diabetes mellitus and high Lp (a) were significant risk factors for CVD. There were no significant differences in risk factors between ethnicities.

In conclusion, men and women differ in the impact of the risk factors on the presence of CVD with family history of CVD and low HDL-C being a significant factor in men while smoking and increased Lp (a) were significant factors in women. Diabetes was a significant factor in both men and women.