Familial hypercholesterolemia in China: Prevalence and evidence of underdetection and undertreatment in a community population

摘要

Familial hypercholesterolemia (FH) is the most common and serious monogenic disorder of lipid metabolism that causes premature coronary and heart disease [1], FH is often undetected and undertreated [1]. The prevalence of FH is at least one in 500 in the general population, depending on diagnostic criteria [2]. Currently there is no consensus on the diagnosis of FH although the Dutch Lipid Clinic Network (DLCN) criteria have been widely used [1]. in Asia, diagnostic criteria has been proposed by Harada-Shiba et al. [3], but as with the Simon-Broome criteria from the UK [4], may have low sensitivity for detecting FH, since it does not use a numerical score and relies on the detection of tendon xanthomata, an infrequent sign in young subjects.