The management of familial hypercholesterolaemia in childhood

Abstract 

Familial hypercholesterolaemia (FH) is the most common inherited metabolic disorder with an estimated incidence of 1 in 500 live births. It is an autosomal dominant trait mostly due to mutations in the low-density lipoprotein receptor gene, although other genetic defects occur. It is just one important risk factor for ischaemic heart disease. There is substantial evidence in the adult literature of the safety and efficacy of lipid-lowering therapy in both primary and secondary prevention of coronary events. Unfortunately, such evidence does not exist for children with FH. In this situation, education about a healthy life-style for the whole family is emphasized. The timing of the introduction of pharmacological therapy depends upon the severity of the family history, the biochemistry and the families' wishes. Those with homozygous FH with accelerated atherosclerosis must be treated early and aggressively with high-dose medications, lipid apheresis and/or liver transplantation.

Keywords: hypercholesterolaemia, LDL receptor, ischaemic heart disease, childhood, statins

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• f1 Correspondence to: PJL. The Charles Dent Metabolic Unit, Post Box 92, The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK. Tel.: +44(0)20 7829 8778; Fax: +44(0)20 7209 2146; E-mail: philip.lee@uclh.org