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, Mariko Harada-Shiba, Shun Ishibashi, Shinji Yokoyama, Hitoshi Shimano, Koutaro YokoteHideaki Bujo, Shizuya Yamashita, Kazuhisa Tsukamoto, Toshio Hayashi, Katsunori Ikewaki, Takanari Gotoda, Kazushige Dobashi, Yoshihiro Miyamoto, Misa Takegami, Yoshiki Sekijima, Yasushi Ishigaki, Hiroaki Okazaki, Atsushi Nohara, Shingo Koyama, Kyoko Inagaki, Koh Ono, Masahiro Koseki, Hiroyuki Daida, Manabu Takahashi, Kimitoshi Nakamura, Takashi Miida, Masa Aki Kawashiri, Tetsuo Minamino, Sachiko Okazaki, Jun Wada, Masatsune Ogura, Hirotoshi Ohmura, Mika Hori, Kota Matsuki, Masashi Yamamoto, Yasuo Takeuchi, Atsuko Nakatsuka, Daisaku Masuda, Satoshi Hirayama, Masayuki Kuroda, Takashi Yamaguchi, Takeyoshi Murano, Hayato Tada

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)791-801
Number of pages11
JournalJournal of atherosclerosis and thrombosis
Issue number8
Publication statusPublished - 2021


  • ABCG5
  • ABCG8
  • Familial hypercholesterolemia
  • Sitosterolemia

ASJC Scopus subject areas

  • Internal Medicine
  • Cardiology and Cardiovascular Medicine
  • Biochemistry, medical


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