title: A phytosterolemia patient presenting exclusively with macrothrombocytopenia and stomatocytic hemolysis.
abstract: BACKGROUND
  Phytosterolemia is a rare autosomal recessive lipid storage disease. It is caused by mutations of ABCG5 and ABCG8 genes and characterized by the increased plasma levels of plant sterols. The common clinical manifestations include tendon and tuberous xanthomas and premature coronary heart disease; it has occasionally been associated with hematologic abnormalities.
  
  
  OBJECTIVE
  We report a phytosterolemia patient presenting exclusively with macrothrombocytopenia and stomatocytic hemolysis and discuss its clinical significance.
  
  
  METHODS
  The patient, aged 31 years, was born of a consanguineous marriage. He had epistaxis from childhood and underwent splenectomy because of thrombocytopenia, anemia and splenomegaly at the age of 9 years. His blood film showed prominent stomatocytes and macroplatelets. High performance liquid chromatography showed a grossly elevated level of phytosterols in the blood. The patient was confirmed to be a homozygote of missense mutation R419H in ABCG5.
  
  
  CONCLUSIONS
  We describe a phytosterolemia patient whose clinical manifestations were macrothrombocytopenia, stomatocytic hemolysis and splenomegaly, without the common features of this disorder. Our results suggest that blood cells could be a target for the toxic effect of plasma plant sterols, which should be measured in patients with unexplained stomatocytosis and/or macrothrombocytopenia in order to determine if they have phytosterolemia.
authors.affiliation: Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Suzhou, China.
authors.forename: Gaifeng
authors.initials: G
authors.lastname: Wang
authors.forename: Zhaoyue
authors.initials: Z
authors.lastname: Wang
authors.forename: Jianying
authors.initials: J
authors.lastname: Liang
authors.forename: Lijuan
authors.initials: L
authors.lastname: Cao
authors.forename: Xia
authors.initials: X
authors.lastname: Bai
authors.forename: Changgeng
authors.initials: C
authors.lastname: Ruan
mesh_terms: D000071018:ATP Binding Cassette Transporter, Subfamily G, Member 5; D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000328:Adult; D001792:Blood Platelets / Q000473:pathology*; D048429:Cell Size; D003241:Consanguinity; D004913:Erythrocytes, Abnormal / Q000473:pathology*; D006461:Hemolysis; D006801:Humans; D006937:Hypercholesterolemia / Q000097:blood* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D007410:Intestinal Diseases / Q000097:blood* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D008052:Lipid Metabolism, Inborn Errors / Q000097:blood* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D008074:Lipoproteins / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D010840:Phytosterols / Q000009:adverse effects / Q000097:blood; D013163:Splenomegaly / Q000209:etiology; D013921:Thrombocytopenia / Q000209:etiology*
chemical_list: C416945:ABCG5 protein, human; D000071018:ATP Binding Cassette Transporter, Subfamily G, Member 5; D018528:ATP-Binding Cassette Transporters; D008074:Lipoproteins; D010840:Phytosterols