Heterozygous familial hypercholesterolaemia (hFH) is most common genetic disease and cause of premature cardiovascular disease (CVD). However, the diagnosis rate is less than 0.1% in Japan. Purpose: We examined the patients hospitalized for CVD and evaluate the extent to which hFH is underdiagnosed and undertreated. Methods: We analyzed the consecutive 553 patients hospitalized for CVD from 2013 to 2015. To investigate the prevalence of hFH, we focused on the patients with high LDL-C levels

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... than 140mg/dL in these CVD patients. Results: Sixty-four patients had high LDL-C levels. In those, 37 (6.7% of all CVD) patients were diagnosed as hFH (62.9±15.4 years) according to FH guidelines. We compared lipids profiles between hFH and the patients with hypercholesterolemia (DL, 68.3±15.0 years). The hFH patients had significantly higher Tcho levels (243.8±32.3mg/dL, 224.1±15.0mg/dL, P<0.01, respectively) and LDL-C levels (172.5±24.2mg/dL, 152.3±8.2mg/dL, P<0.01, respectively) than DL patients. Blood pressure, EF, TG, HDL-C, Cre, BNP, CRP were not significant difference between hFH and DL. Furthermore, 32.4% of hFH had the past history of CVD. However, just 27% of hFH were treated with statins on admission, and also only 0.05% of hFH had a definitive diagnosis at discharge. Conclusions Owing to severe underdiagnosis and under treatment of hFH, there is an urgent need for diagnostic screening together with early and aggressive treatments of high-risk condition of future cardiovascular events.