Clinical features, molecular characteristics, and treatments of a Chinese girl with sitosterolemia: A case report and literature review.
J Clin Lipidol
; 13(2): 246-250, 2019.
Article
em En
| MEDLINE
| ID: mdl-30782472
ABSTRACT
Sitosterolemia is a rare autosomal recessive disease characterized by a significant increase in blood plant sterol levels. Clinical manifestations usually include xanthomas, hypercholesterolemia,premature atherosclerosis and hematological abnormalities. We report here a sitosterolemia patient who presented with multiple xanthomas and profound hypercholesterolemia since 3 years old. The girl was mistreated as familial hypercholesterolemia for 6 years until correct diagnosis was made by detecting serum plant cholesterol levels. Sequence analysis revealed compound heterozygous mutations in ABCG5 gene, including the previously reported mutation c.904+1Gï¼A and a novel missense mutation c.1528Cï¼A. Although cholestyramine therapy reduced cholesterol level in association with marked regress of the xanthomas, serum plant sterol levels still remain high. Our study suggests that patients develop severe hypercholesterolemia and xanthomas at early age should be suspected of sitosterolemia. In addition, we also describe a novel missense mutation in exon 11 of the ABCG5 gene, which enriches the genetic mutation spectrum of sitosterolemia.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Temas:
Geral
Base de dados:
MEDLINE
Assunto principal:
Fitosteróis
/
Hipercolesterolemia
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Enteropatias
/
Erros Inatos do Metabolismo Lipídico
Limite:
Child
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Child, preschool
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Female
/
Humans
Idioma:
En
Revista:
J Clin Lipidol
Assunto da revista:
BIOQUIMICA
/
METABOLISMO
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
China