著者
Hayato Tada Akihiro Nomura Masatsune Ogura Katsunori Ikewaki Yasushi Ishigaki Kyoko Inagaki Kazuhisa Tsukamoto Kazushige Dobashi Kimitoshi Nakamura Mika Hori Kota Matsuki Shizuya Yamashita Shinji Yokoyama Masa-aki Kawashiri Mariko Harada-Shiba on behalf of the Committee on Primary Dyslipidemia under the Research Program on Rare and Intractable Desease of the Ministry of Health Labour and Welfare of Japan
出版者
Japan Atherosclerosis Society
雑誌
Journal of Atherosclerosis and Thrombosis (ISSN:13403478)
巻号頁・発行日
pp.RV17052, (Released:2021-04-28)
参考文献数
56
被引用文献数
36

Sitosterolemia is an inherited metabolic disorder characterized by increased levels of plant sterols, such as sitosterol. This disease is caused by loss-of-function genetic mutations in ATP-binding cassette (ABC) subfamily G member 5 or member 8 (ABCG5 or ABCG8, respectively), both of which play important roles in selective excretion of plant sterols from the liver and intestine, leading to failure to prevent absorption of food plant sterols. This disorder has been considered to be extremely rare. However, accumulated clinical data as well as genetics suggest the possibility of a much higher prevalence. Its clinical manifestations resemble those observed in patients with familial hypercholesterolemia (FH), including tendon xanthomas, hyper LDL-cholesterolemia, and premature coronary atherosclerosis. We provide an overview of this recessive genetic disease, diagnostic as well as therapeutic tips, and the latest diagnostic criteria in Japan.
著者
Koji Hasegawa Kazuhisa Tsukamoto Motoei Kunimi Koichi Asahi Kunitoshi Iseki Toshiki Moriyama Kunihiro Yamagata Kazuhiko Tsuruya Shouichi Fujimoto Ichiei Narita Tsuneo Konta Masahide Kondo Kenjiro Kimura Yasuo Ohashi Tsuyoshi Watanabe
出版者
一般社団法人 日本動脈硬化学会
雑誌
Journal of Atherosclerosis and Thrombosis (ISSN:13403478)
巻号頁・発行日
pp.31906, (Released:2016-03-08)
参考文献数
24
被引用文献数
9

Aims: Several guidelines propose target levels (TLs) of atherosclerotic risk factors (ARFs) to reduce atherosclerotic cardiovascular diseases; however, few data are available regarding the attainment statuses of TLs in Japan. In this study, utilizing the data obtained from the annual “Specific Health Check and Guidance in Japan” conducted from 2008 to 2011 (approximately 280,000 subjects each year), we determined TL attainments of ARFs in cardiovascular high-risk subjects.Methods: Those who had suffered from cerebrovascular disease (pCVD) or coronary heart disease (pCHD) or were receiving diabetes mellitus treatment (DM) were selected, and the rates of subjects that attained TLs of blood pressure (BP), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), triglycerides (TGs) and glycated hemoglobin (HbA1c) were analyzed.Results: Approximately 70% of pCVD or pCHD and 35% of subjects with DM attained TLs of BP. With regard to HbA1c, >90% of pCVD or pCHD and approximately 50% of subjects with DM attained TLs. With regard to LDL-C, <25% of pCHD females and approximately 35% of pCHD males and 50%–55% of subjects with pCVD or DM attained TLs. The TL-attainment rates of HDL-C and TGs were approximately 90% and 75%, respectively, for the three diseases. Analyses of time course changes in their attainment statuses revealed that the attainment rates of BP and LDL-C significantly improved in all the diseases.Conclusions: TL-attainment rates of BP and LDL-C were not as high as those for HDL-C, TGs, and HbA1c; however, they both showed highly significant improvements during the study period.