Letter by Pérez de Isla et al Regarding Article, “Prevalence of Familial Hypercholesterolemia in the 1999 to 2012 United States National Health and Nutrition Examination Surveys (NHANES)”
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To the Editor:
We read with great interest the excellent article by de Ferranti et al on familial hypercholesterolaemia (FH) in Circulation.1 FH is an autosomal codominant disorder characterized by elevated plasma concentrations of low-density lipoprotein cholesterol, usually due to a single copy of a loss-of-function allele in the gene encoding the LDL receptor.2 Untreated affected individuals have an increased risk of premature atherosclerotic cardiovascular disease and early mortality.2 Early diagnosis of FH leads to initiation of preventive measures. This effective treatment is, from our point of view, the main reason to emphasize the crucial relevance of an accurate and early …