Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in ABCG5

• Published in: Internal Medicine Vol. 62; no. 2; pp. 251 - 259
• Main Authors: Tada, Hayato, Okada, Hirofumi, Nomura, Akihiro, Takamura, Masayuki, Kawashiri, Masa-aki
• Format: Journal Article
• Language: English
• Published: Japan The Japanese Society of Internal Medicine 15.01.2023; Japan Science and Technology Agency
• Subjects: ABCG5; ATP Binding Cassette Transporter, Subfamily G, Member 5 - genetics; Case Report; Child; Cholesterol; Cholesterol, LDL; familial hypercholesterolemia; Female; Humans; Hypercholesterolemia; Hypercholesterolemia - drug therapy; Hypercholesterolemia - genetics; Internal medicine; LDL cholesterol; LDLR; Lipoproteins - genetics; Low density lipoprotein; Mutation; Weaning; ABCG5; LDL cholesterol; LDLR; familial hypercholesterolemia
• ISSN: 0918-2918; 1349-7235
• DOI: 10.2169/internalmedicine.0050-22

We 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.