Management of familial hypercholesterolaemia in children

Key words: Familial hypercholesterolemia, Prevention, Treatment of childhood disorders

Among hypercholesterolaemias, familial hypercholesterolaemia is a hereditary dyslipidaemia characterised by an isolated and permanent increase in circulating low-density lipoprotein (LDL) levels. The heterozygous form is often clinically silent and may be diagnosed at any age following a lipid analysis and a familial history of coronary artery disease, a personal history of coronary artery disease and extravascular deposits, and an isolated hypercholesterolaemia that does not respond to a lipid-controlled diet. The homozygous form is the most serious, and luckily it is rare, with onset in the first two years of life; it is characterised by cutaneous or tendon xanthomas, high LDL levels, and an arteriopathy that manifests within 10 years of age. An early diagnosis can improve clinical evolution, so an early and specific approach to children who present with the disease or have a familial history of dyslipidaemia is necessary.