演題

Underdiagnosis and Non-treatment of Heterozygous Familial Hypercholesterolemia in Association with Cardiovascular Disease

[演者] Haruki Sekiguchi:1
[共同演者] Takuro Abe:1, Eri Yamamoto:1, Makiko Kimura:1, Akiko Sakai:1, Kayoko Sato:1, Nobuhisa Hagiwara:1
1:Department of Cardiology, Tokyo Women's Medical University, Tokyo

Introduction:Heterozygous familial hypercholesterolemia(hFH) is a common genetic disease causes premature cardiovascular disease(CVD). However,the rate of diagnosis is less than 0.1%.AIMS:We examined patients with CVD and evaluated the extent to hFH prevalence.Methods:Among 4546 patients admitted to our hospital between 2013 and 2015,we studied 1341 patients consecutively hospitalized for CVD. Based on Japanese diagnosis criteria of hFH,we diagnosed patients as hFH and classified them into three groups:1)Definitive hFH:patients demonstrating 2 or 3 factors as per guidelines. 2)Probable hFH(FH s/o):patients demonstrating only 1 factor as per guidelines. 3)Hypercholesterolemia(DL):patients not demonstrating any factor as per guidelines. We compared characteristics and lipid profiles between these groups.Results:To analyze the rate of hFH,we examined 127 patients with high levels of low-density lipoprotein cholesterol(LDL-C)>140mg/dL in 1341 CVD patients. We diagnosed 20 hFH(47.8±4.7years) patients,25 hFH s/o(58.1±13.6years) patients,and 83 DL(73.4±8.4years) patients. Maximum LDL-C levels were significantly higher in the hFH group compared to the others(213±55mg/dL, 178±32mg/dL,146±26mg/dL,P<0.01,respectively).Triglyceride levels in hFH and hFH s/o patients were higher than patients with DL(212±126mg/dL,203±114mg/dL,148±80mg/dL, P<0.01,respectively). However,only 15.0% of hFH patients were treated with statins upon admission,and just 1.5% of hFH patients had received a definitive diagnosis at the time of discharge.Conclusions:We conclude that owing to severe underdiagnosis and non-treatment of hFH,there is an urgent need for better diagnostic screening in addition to early and aggressive treatment of high-risk conditions that might precipitate future cardiovascular events.

[Keywords] dyslipidemia / cardiovascular diseases
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