Sekiguchi Haruki    Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine    Position   Associate Professor
Language	English
Title	Underdiagnosis and Undertreatment of Heterozygous Familial Hypercholesterolemia in Association With Cardiovascular Disease
Conference	American Heart Association (AHA) Scientific Sessions 2017
Promoters	American Heart Association
Conference Type	International society and overseas society
Presentation Type	Poster notice
Lecture Type	General
Publisher and common publisher	SEKIGUCHI Haruki, ◎ABE Takuro, IMU Jihaeng, TAKANO Mayu, KIMURA Makiko, ISHIDA Issei, SAKAI Akiko, SATO Kayoko, HAGIWARA Nobuhisa
Date	2017/11/14
Venue (city and name of the country)	Anaheim, USA
Society abstract	Circulation 136(Suppl 1),A19942 2017
Summary	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.