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- Hayato Tada, Hirofumi Okada, Akihiro Nomura, Masayuki Takamura, and Masa-Aki Kawashiri.
- Department of Cardiology, Kanazawa University Graduate School of Medicine, Japan.
- Intern. Med. 2023 Jan 15; 62 (2): 251259251-259.
AbstractWe herein present a case series of hypercholesterolemia caused by a pathogenic mutation in the ATP-binding cassette sub-family G member 5 (ABCG5). Three unrelated infantile patients who were breastfed and had extremely elevated low-density lipoprotein (LDL) cholesterol levels were referred to our hospital. Their LDL cholesterol levels decreased significantly after weaning. Panel sequencing revealed a pathogenic mutation in ABCG5 in each patient. An 8-year-old girl was also referred due to suspected familial hypercholesterolemia. Panel sequencing revealed a pathogenic mutation in ABCG5. A cholesterol-reduced diet alone significantly reduced the LDL cholesterol levels. Moreover, the administration of ezetimibe was found to be beneficial.
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