A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis

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. Pediatr Blood Cancer 2014; 61:1457–1459. © 2014 Wiley Periodicals, Inc.