LAUSR

Purpose of review There has recently been renewed interest in the study of the various facets of familial hypercholesterolemia, a severe monogenic disease associated with elevated LDL-cholesterol and premature cardiovascular disease (CVD). In the present review, novel data presenting the frequency of familial hypercholesterolemia as well as factors modulating the cardiovascular risk in familial hypercholesterolemia will be discussed. Recent findings Recent studies have showed that familial hypercholesterolemia is much more prevalent than initially thought. Classically, it was estimated that familial hypercholesterolemia affected one in 500 people worldwide, but a recent large-scale meta-analysis has shown a prevalence closer to one in 250. In the French-Canadian population, this disease is even more frequent reaching one in 81 in certain regions of the Province of Quebec. Several novel studies in the French-Canadian population have shown that the clinical outcomes in familial hypercholesterolemia seem to be greatly influenced by risk factors other than LDL-cholesterol. Also, scores to predict CVD in familial hypercholesterolemia have been recently proposed. Summary Familial hypercholesterolemia is more frequent than initially thought and the phenotype of this disease can be variable. Indeed, both clinical and genetic variables can modulate the CVD risk in this population.