Screening for Familial Hypercholesterolaemia: Universal or Cascade? A Critique of Current FH Recognition Strategies
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PEDIATRICS (S GIDDING, SECTION EDITOR)
Screening for Familial Hypercholesterolaemia: Universal or Cascade? A Critique of Current FH Recognition Strategies D. R. Sullivan & L. Freeman & L. Molloy & G. Williams
# Springer Science+Business Media New York 2015
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 casefinding 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. Keywords Familial hypercholesterolaemia . Cascade screening . Universal screening . Index case . Genetic . Dominant . Heterozygous . Premature cardiovascular disease . Mutation . Low-density lipoprotein (LDL) . LDL receptor This article is part of the Topical Collection on Pediatrics D. R. Sullivan (*) Department of Chemical Pathology, Royal Prince Alfred Hospital, Missenden Rd, Camperdown, NSW 2050, Australia e-mail: [email protected]
Introduction Familial hypercholesterolaemia (FH) is caused by genetic mutations that impair the function of receptor-mediated endocytosis of potentially atherogenic lipoproteins, most notably low-density lipoproteins (LDL). Clinical consequences include approximate doubling of plasma LDL cholesterol (LDL-C) levels, increase in lipoprotein (a) (Lp(a)) and acceleration of all forms of atherosclerotic cardiovascular disease (CVD). This dominantly inherited condition, which is expressed from birth, is associated with evidence of CVD damage in the first decade of life [1, 2]. The commonly accepted prevalence of FH worldwide is approximately 1:500, but higher rates have been reported recently [3] and regions where there is a founder gene effect may have rates in excess of 1:100 [4]. FH is responsive to diet and statin [5] therapy as well as additional measures, if required [6]. Identification at an early age permits intervention before lifestyle habits become entrenched. It also allows consideration of pharmacological treatment prior to the onset of major CVD [7]. The morbidity and mortality benefits associated with management of FH are cost effective in most settings [8].
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