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

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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.