Abstract
Phytosterolemia is a rare autosomal recessive sterol storage disease caused by mutations in ABCG5 and ABCG8 genes. A 9-year-old Turkish boy who was presented with exclusively hematologic abnormalities had elevated plant sterol levels. Sequencing of ABCG5 and ABCG8 genes revealed a novel homozygous IVS10-1 G>T mutation in ABCG5 gene. Four of the 13 family members had xanthoma but they had neither hematologic abnormalities nor IVS10-1 G>T mutation. Ezetimibe therapy reduced plant sterol levels in association with marked clinical improvement. Plant sterol levels and ABCG5/ABCG8 genes should be analysed in patients with unexplained hemolytic anemia and macrothrombocytopenia.
Keywords:
ABCG5 gene; novel mutation; phytosterolemia.
© 2014 Wiley Periodicals, Inc.
MeSH terms
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ATP Binding Cassette Transporter, Subfamily G, Member 5
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ATP Binding Cassette Transporter, Subfamily G, Member 8
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ATP-Binding Cassette Transporters / genetics*
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Anticholesteremic Agents / administration & dosage
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Azetidines / administration & dosage
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Child
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Ezetimibe
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Hematologic Diseases / complications
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Hematologic Diseases / drug therapy
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Hematologic Diseases / genetics*
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Humans
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Hypercholesterolemia / complications
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Hypercholesterolemia / drug therapy
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Hypercholesterolemia / genetics*
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Intestinal Diseases / complications
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Intestinal Diseases / drug therapy
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Intestinal Diseases / genetics*
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Lipid Metabolism, Inborn Errors / complications
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Lipid Metabolism, Inborn Errors / drug therapy
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Lipid Metabolism, Inborn Errors / genetics*
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Lipoproteins / genetics*
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Male
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Phytosterols / adverse effects*
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Phytosterols / genetics
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Point Mutation*
Substances
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ABCG5 protein, human
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ABCG8 protein, human
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ATP Binding Cassette Transporter, Subfamily G, Member 5
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ATP Binding Cassette Transporter, Subfamily G, Member 8
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ATP-Binding Cassette Transporters
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Anticholesteremic Agents
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Azetidines
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Lipoproteins
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Phytosterols
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Ezetimibe