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

Journal: Journal of atherosclerosis and thrombosis 2022;28(8):791-801

PMID: 33907061

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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.

Address: Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences.; Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute.; Division of Neurology, Anti-Aging, and Vascular Medicine, Department of Internal Medicine, National Defense Medical College.; Division of Diabetes, Metabolism and Endocrinology, Department of Internal Medicine, Iwate Medical University.; Division of Diabetes, Endocrinology, and Metabolism, Department of Medicine, Nippon Medical School.; Department of Internal Medicine, Teikyo University.; Department of Pediatrics, School of Medicine, University of Yamanashi.; Department of Pediatrics, Kumamoto University Graduate School of Medical Sciences.; Department of Endocrinology, Research Institute of Environmental Medicine, Nagoya University.; Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine.; Rinku General Medical Center.; Institute for Biological Functions, Chubu University.; Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center Research Institute.

DOI: 10.5551/jat.RV17052