Familial hypercholesterolemia (FH) is a worldwide common autosomal inherited condition
associated with premature cardiovascular diseases, both in men and in women (World frequency
has been recently estimated to be as high as 1:250). Identifying FH cases early in life
could represent a cornerstone to prevent fatal events in adult’s life. Pediatricians are well positioned
to evaluate the familial cardiovascular risk factors among their young patients, to make a
diagnosis and to perform familial screening. The goal of this paper is therefore to emphasize the
recognition of this genetic condition at a younger age and to initiate both familial screening and a
safe treatment. Prevention of cardiovascular disease starts at an early age in all children, but it
may save lives in FH patients.
Keywords: Hypercholesterolemia, pediatricians, screening, cardiovascular prevention risk factors, genetic condition.
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