TY - JOUR
T1 - Diagnosis and management of sitosterolemia 2021
AU - Tada, Hayato
AU - Nomura, Akihiro
AU - Ogura, Masatsune
AU - Ikewaki, Katsunori
AU - Ishigaki, Yasushi
AU - Inagaki, Kyoko
AU - Tsukamoto, Kazuhisa
AU - Dobashi, Kazushige
AU - Nakamura, Kimitoshi
AU - Hori, Mika
AU - Matsuki, Kota
AU - Yamashita, Shizuya
AU - Yokoyama, Shinji
AU - Kawashiri, Masa Aki
AU - Harada-Shiba, Mariko
AU - Harada-Shiba, Mariko
AU - Ishibashi, Shun
AU - Yokoyama, Shinji
AU - Shimano, Hitoshi
AU - Yokote, Koutaro
AU - Bujo, Hideaki
AU - Yamashita, Shizuya
AU - Tsukamoto, Kazuhisa
AU - Hayashi, Toshio
AU - Ikewaki, Katsunori
AU - Gotoda, Takanari
AU - Dobashi, Kazushige
AU - Miyamoto, Yoshihiro
AU - Takegami, Misa
AU - Sekijima, Yoshiki
AU - Ishigaki, Yasushi
AU - Okazaki, Hiroaki
AU - Nohara, Atsushi
AU - Koyama, Shingo
AU - Inagaki, Kyoko
AU - Ono, Koh
AU - Koseki, Masahiro
AU - Daida, Hiroyuki
AU - Takahashi, Manabu
AU - Nakamura, Kimitoshi
AU - Miida, Takashi
AU - Kawashiri, Masa Aki
AU - Minamino, Tetsuo
AU - Okazaki, Sachiko
AU - Wada, Jun
AU - Ogura, Masatsune
AU - Ohmura, Hirotoshi
AU - Hori, Mika
AU - Matsuki, Kota
AU - Yamamoto, Masashi
AU - Takeuchi, Yasuo
AU - Nakatsuka, Atsuko
AU - Masuda, Daisaku
AU - Hirayama, Satoshi
AU - Kuroda, Masayuki
AU - Yamaguchi, Takashi
AU - Murano, Takeyoshi
AU - Tada, Hayato
N1 - Funding Information:
Ltd., Takeda Pharmaceutical Co., Ltd., Kowa Co., Ltd. Takashi Miida has nothing to disclose. Yoshihiro Miyamoto has nothing to disclose. Takeyoshi Murano has nothing to disclose. Takashi Yamaguchi has nothing to disclose. Shizuya Yamashita has received honoraria from Kowa Company, Ltd., MSD K.K. Masashi Yamamoto has nothing to disclose. Koutaro Yokote has received honoraria from Kowa Company, Ltd., MSD K.K., Astellas Pharma Inc., Mitsubishi Tanabe Pharma Corp., Amgen K.K., Takeda Pharmaceutical Company Limited, Sanofi K.K., Ono Pharmaceutical Co., Ltd., AstraZeneca K.K., Daiichi-Sankyo Co., Ltd., Novartis Pharma K.K., Sumitomo Dainippon Pharma Co., Ltd., Kyowa Kirin Co., Ltd., Pfizer Japan Inc., Novo Nordisk Pharma Ltd., Nippon Boehringer Ingelheim Co., Ltd., Eli Lilly Japan K.K., Taisho Pharmaceutical Co., Ltd., Janssen Pharmaceutical K.K., and received clinical research funding from Taisho Pharmaceutical Co., Ltd. KY has also received scholarship grants from Mitsubishi Tanabe Pharma Corp., Takeda Pharmaceutical Co., Ltd., MSD K.K., Pfizer Japan Inc., Novo Nordisk Pharma Ltd., Taisho Pharmaceutical Co., Ltd., Kao Corporation, Ono Pharmaceutical Co., Ltd., Eli Lilly Japan K.K., Sumitomo Dainippon Pharma Co., Ltd., Nippon Boehringer Ingelheim Co., Ltd., Daiichi-Sankyo Co., Ltd., Teijin Pharma, Ltd., Shionogi Co., Ltd., Bayer Yakuhin, Ltd. Jun Wada has nothing to disclose.
Funding Information:
Hitoshi Shimano has nothing to disclose. Hiroyuki Daida has received honoraria from Amgen Inc., Daiichi-Sankyo Co., Ltd., Kowa Co., Ltd., and MSD K.K., Novartis Pharma K.K., Bayer Yakuhin, Ltd. and received clinical research funding from Canon Medical Systems Corporation, Philips Japan, Ltd., Toho Holdings Co., Ltd., Asahi Kasei Corporation, and Inter Reha Co., Ltd. HD has also received scholarship grants from Nippon Boehringer Ingelheim Co., Ltd., Otsuka Pharmaceutical Co., Ltd., Sanofi K.K., MSD K.K., Daiichi-Sankyo Co., Ltd., Pfizer Co., Ltd., Mitsubishi Tanabe Pharma Corp., Astellas Pharma Inc., Takeda Pharmaceutical Co., Ltd., Teijin Pharma, Ltd., Shionogi & Co., Ltd., Actelion Pharmaceuticals, Ltd., Actelion Ltd., Kowa Co., Ltd., Bayer Yakuhin, Ltd. HD has also courses endowed by companies, including Philips Japan, Ltd., ResMed, Fukuda Denshi Co., Ltd., and Paramount Bed Co., Ltd. Kazushige Dobashi has nothing to disclose. Toshio Hayashi has nothing to disclose. Mika Hori has nothing to disclose. Kota Matsuki has nothing to disclose. Tetsuo Minamino has nothing to disclose. Shinji Yokoyama has nothing to disclose. Mariko Harada-Shiba has received stock holdings or options from Liid Pharma, honoraria from Amgen Inc., Astellas Pharma Inc., Sanofi, and scholarship grants from Aegerion Pharmaceuticals, Inc., Recordati Rare Diseases Japan, and Kaneka Corporation. Katsunori Ikewaki has nothing to disclose. Yasushi Ishigaki has nothing to disclose. Shun Ishibashi has received honoraria from Kowa Co., Ltd., and a scholarship grant from Ono Pharmaceutical Co., Ltd. Kyoko Inagaki has nothing to disclose. Hirotoshi Ohmura has nothing to disclose. Hiroaki Okazaki has received scholarship grants from Minophagen Pharmaceutical Co., Ltd., Kowa Company, Ltd. Masa-aki Kawashiri has nothing to disclose. Masayuki Kuroda has nothing to disclose. Masahiro Koseki has received clinical research funding from Kowa Company, Ltd., Rohto Pharmaceutical Co., Ltd. Takanari Gotoda has nothing to disclose. Shingo Koyama has nothing to disclose. Yoshiki Sekijima has nothing to disclose. Manabu Takahashi has nothing to disclose. Yasuo Takeuchi has nothing to disclose. Misa Takegami has nothing to disclose. Kazuhisa Tsukamoto has received honoraria from Bayer Yakuhin, Ltd., MSD Ltd., Takeda Pharmaceutical Company Ltd., and scholarship grants from Mitsubishi Tanabe Pharma Corporation., Bayer Yakuhin, Ltd., Sanofi K.K. Atsuko Nakatsuka has nothing to disclose. Kimitoshi Nakamura has nothing to disclose. Satoshi Hirayama has nothing to disclose. Hideaki Bujo has nothing to disclose. Daisaku Masuda has received clinical research funding from MSD K.K., Ono Pharmaceutical Co.,
Publisher Copyright:
© 2021 Japan Atherosclerosis Society.
PY - 2021
Y1 - 2021
N2 - 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.
AB - 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.
KW - ABCG5
KW - ABCG8
KW - Familial hypercholesterolemia
KW - Sitosterolemia
UR - http://www.scopus.com/inward/record.url?scp=85112767215&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85112767215&partnerID=8YFLogxK
U2 - 10.5551/jat.RV17052
DO - 10.5551/jat.RV17052
M3 - Article
C2 - 33907061
AN - SCOPUS:85112767215
SN - 1340-3478
VL - 28
SP - 791
EP - 801
JO - Journal of Atherosclerosis and Thrombosis
JF - Journal of Atherosclerosis and Thrombosis
IS - 8
ER -