Response by de Ferranti et al to Letter Regarding Article, “Prevalence of Familial Hypercholesterolemia in the 1999 to 2012 United States National Health and Nutrition Examination Surveys (NHANES)”
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We welcome the comments provided by Pérez de Isla and colleagues noting our use of adapted Dutch Lipid Clinic criteria in NHANES (National Health and Nutrition Examination Survey) data to estimate the prevalence of familial hypercholesterolemia (FH) as 1 in 250 US adults in our recent Circulation article.1 We agree with Pérez de Isla et al on many points, perhaps most importantly that “the main reason to emphasize the crucial relevance of an accurate and early diagnosis in every FH patient” is to provide effective treatment to reduce the risk of early atherosclerotic cardiovascular disease morbidity and mortality associated with FH.2
Moreover, we agree with Pérez de Isla et al’s description of the limitations of using clinical criteria to establish the diagnosis of FH, ie, relatively low low-density lipoprotein …