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

Familial hypercholesterolemia (FH) is the most common and serious monogenic disorder of lipid metabolism that causes premature coronary and heart disease [ [1] Watts G.F. Gidding S. Wierzbicki A.S. et al. Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. Int J Cardiol. 2014; 171: 309-325 Abstract Full Text Full Text PDF PubMed Scopus (276) Google Scholar ]. FH is often undetected and undertreated [ [1] Watts G.F. Gidding S. Wierzbicki A.S. et al. Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. Int J Cardiol. 2014; 171: 309-325 Abstract Full Text Full Text PDF PubMed Scopus (276) Google Scholar ]. The prevalence of FH is at least one in 500 in the general population, depending on diagnostic criteria [ [2] Benn M. Watts G.F. Tybjaerg-Hansen A. Nordestgaard B.G. Familial hypercholesterolemia in the Danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication. J Clin Endocrinol Metab. 2012; 97: 3956-3964 Crossref PubMed Scopus (468) Google Scholar ]. Currently there is no consensus on the diagnosis of FH although the Dutch Lipid Clinic Network (DLCN) criteria have been widely used [ [1] Watts G.F. Gidding S. Wierzbicki A.S. et al. Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. Int J Cardiol. 2014; 171: 309-325 Abstract Full Text Full Text PDF PubMed Scopus (276) Google Scholar ]. In Asia, diagnostic criteria has been proposed by Harada-Shiba et al. [ [3] Harada-Shiba M. Arai H. Oikawa S. et al. Guidelines for the management of familial hypercholesterolemia. J Atheroscler Thromb. 2012; 19: 1043-1060 Crossref PubMed Scopus (144) Google Scholar ], but as with the Simon-Broome criteria from the UK [ [4] Scientific Steering Committee Simon Broome Register Group Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group. BMJ. 1991; 303: 893-896 Crossref PubMed Google Scholar ], 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.