| Resumo: | Familial hypercholesterolemia (FH) is an inherited disorder of cholesterol metabolism, clinically characterized by high levels of LDL-associated cholesterol in plasma leading to accelerated atherosclerosis and increased risk of premature coronary heart disease (CHD). FH results from mutations in three genes involved in lipid metabolism: LDLR, APOB, PCSK9. Molecular identification of these patients can reduce the burden of mortality from cardiovascular disorders simply by the correct identification of the disease early in life, followed by counselling on appropriate lifestyle modifications and therapeutic measures when required. The aim of the Portuguese FH Study (PFHS) is to identify FH patients in order to prevent the development of premature CHD. From 563 index patients sent for the study, 153 are children. The aim of this study was to analyse the data from children with and without genetically diagnosis of FH recruited for the PFHS concerning their BMI.
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