セキグチ　ハルキ   SEKIGUCHI Haruki   関口　治樹    所属   医学部 医学科（東京女子医科大学病院）    職種   准教授
言語種別	英語
発表タイトル	Underdiagnosis and non-treatment of heterozygous familial hypercholesterolemia in association with cardiovascular disease
会議名	ESC Congress 2018
主催者	European Society of Cardiology
学会区分	国際学会及び海外の学会
発表形式	ポスター掲示
講演区分	一般
発表者・共同発表者	SEKIGUCHI Haruki, ABE Takuro, ◎YAMAMOTO Eri, KOIKE Toshiharu, SAKAI Akiko, SATO Kayoko, HAGIWARA Nobuhisa
発表年月日	2018/08/28
開催地 （都市, 国名）	Munich, GERMANY
学会抄録	European Heart Journal 39(1),6267 2018
概要	Introduction: Heterozygous familial hypercholesterolemia (hFH) is a common genetic disease that causes premature coronary heart disease. However, the rate of diagnosis in Japan is less than 0.1%. Aims: We examined patients hospitalized with cardiovascular disease (CVD) and evaluated the extent to which hFH is underdiagnosed and undertreated. Methods: Among the 4546 patients admitted to our hospital between June 2013 and May 2015, we studied 1341 patients consecutively hospitalized for CVD. Based on Japanese diagnosis criteria of hFH, we diagnosed patients as heterozygous familial hypercholesterolemia (hFH) and classified them into three groups: 1) Definitive hFH: patients demonstrating 2 or 3 factors as per FH guidelines. 2) Probable hFH (FH s/o): patients demonstrating only 1 factor. 3) Hypercholesterolemia (DL): patients not demonstrating any factor. 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 (48±5 years) patients, 25 hFH s/o (59±14 years) patients, and 83 DL (73±8 years) patients. Maximum LDL-C levels were significantly high in the hFH compared to the others (213±55, 178±32, 146±26 mg/dL, P<0.01, respectively).Triglyceride levels in hFH and hFH s/o patients were higher than patients with DL (212±126, 203±114, 148±80 mg/dL, P<0.01, respectively). However, there were no significant differences in high-density lipoprotein cholesterol, blood pressure, creatinine, brain natriuretic peptide, C-reactive protein, and ejection fraction between the three groups. However, 15.0% of hFH patients were treated with statins upon admission, and only 1.5% of hFH patients had received a definitive diagnosis at the time of discharge. During the follow-up, significantly higher cardiac event were observed in the hFH and hFH s/o patients than in DL patients (11.1% vs. 4.8%, P<0.05). Conclusions: We conclude that owing to severe underdiagnosis and undertreatment 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.