Diagnosis and Management of Sitosterolemia 2021
| Autor: | Kazushige Dobashi, Mika Hori, Shinji Yokoyama, Yasushi Ishigaki, Kyoko Inagaki, Katsunori Ikewaki, Kimitoshi Nakamura, Masatsune Ogura, Shizuya Yamashita, Kota Matsuki, Hayato Tada, Masa-aki Kawashiri, Kazuhisa Tsukamoto, Akihiro Nomura, Mariko Harada-Shiba |
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| Rok vydání: | 2021 |
| Předmět: |
ABCG5
Familial hypercholesterolemia Hypercholesterolemia Review ABCG8 Disease 030204 cardiovascular system & hematology Bioinformatics Lipid Metabolism Inborn Errors 03 medical and health sciences 0302 clinical medicine Japan Internal Medicine medicine Humans In patient Coronary atherosclerosis biology business.industry Biochemistry (medical) Metabolic disorder Disease Management Phytosterols Sitosterolemia medicine.disease Intestinal Diseases biology.protein lipids (amino acids peptides and proteins) Cardiology and Cardiovascular Medicine business 030217 neurology & neurosurgery |
| Zdroj: | Journal of Atherosclerosis and Thrombosis |
| ISSN: | 1880-3873 1340-3478 |
| DOI: | 10.5551/jat.rv17052 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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