Screening for Familial Hypercholesterolaemia: Universal or Cascade? A Critique of Current FH Recognition Strategies

Abstract

Familial hypercholesterolaemia is a highly prevalent, treatable, dominant genetic disorder that accelerates morbidity and mortality due to premature cardiovascular disease by several decades. Early detection and treatment of familial hypercholesterolaemia offers one of the most effective interventions for further reduction in the incidence of premature coronary disease, stroke and peripheral vascular disease. Public health strategies to address familial hypercholesterolaemia differ, but lack of implementation is a common feature worldwide. This review compares and contrasts the two main case-finding strategies, family cascade screening and universal screening. Strengths and weaknesses are identified for both techniques. Differences between these public health strategies will be considered in the context of the etiological, social, cultural, medical and economic variations that occur internationally. We conclude that both family cascade screening and universal screening have features that may be beneficial in appropriate circumstances. The most pressing need is for vigorous implementation of proven strategies according to local circumstances.