Cristina Pederiva, Valentina Rovelli and Giuseppe Banderali*
Familial Hypercholesterolaemia (FH) is the most common primitive cause of hypercholesterolaemia, affecting 1: 200-250 individuals and characterized by lifelong elevation of lowdensity lipoprotein cholesterol (LDL-C) levels which significantly accelerate atherosclerosis. Early detection and treatment of hypercholesterolaemia in childhood can reduce the impact on the cumulative life-burden of LDL cholesterol. In the last ten years, many screening strategies involving the whole family have been carried out: selective screening, cascade screening, inverse screening, and universal screening. Blood lipid profile evaluation (total cholesterol, LDL-C, HDL-C and triglycerides) is the first step. It has to be ideally performed between 2 and 10 years of age. Hypercholesterolaemia has to be confirmed with a second sample and followed by the detection of family history for premature (before 55 y in men and 60 y in women) or subsequent cardio-vascular events and/or hypercholesterolaemia in 1st and 2nd degree relatives. The management of hypercholesterolaemia in childhood primarily involves healthy lifestyle and a prudent low-fat diet, emphasizing the benefits of the Mediterranean diet. Statins are the cornerstone of the drug therapy approved in USA and in Europe for use in children. Ezetimibe or bile acid sequestrants may be required to attain LDL-C goal in some patients. Early identification of children with severe hypercholesterolaemia or with FH is important to prevent atherosclerosis at the earliest stage of development, when maximum benefit can still be obtained via lifestyle adaptations and therapy.
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