Diagnosis and Management of Sitosterolemia 2021
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
Abstract
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.