Macrothrombocytopenia/stomatocytosis specially associated with phytosterolemia

Clinical and Applied Thrombosis/Hemostasis

Volumn 18, Issue 6, 2012, Pages 582-587

  Wang, Gaifeng ^a   Cao, Lijuan ^a   Wang, Zhaoyue ^a   Jiang, Minghua ^a   Sun, Xionghua ^a   Bai, Xia ^a   Ruan, Changgeng ^a  

^a BEIJING HOSPITAL   (China)

Author keywords

ABCG5; ABCG8; hemolysis; macrothrombocytopenia; phytosterolemia

Indexed keywords

ABC TRANSPORTER; ADENOSINE TRIPHOSPHATE BINDING CASSETTE SUBFAMILY G5; ADENOSINE TRIPHOSPHATE BINDING CASSETTE SUBFAMILY G8; CHOLESTANOL; GENOMIC DNA; SITOSTEROL; STIGMASTEROL; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DNA SEQUENCE; ERYTHROCYTE FRAGILITY; ERYTHROCYTE SHAPE; FEMALE; GENE MUTATION; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOMOZYGOSITY; HUMAN; HUMAN CELL; IN VITRO STUDY; LIPID BLOOD LEVEL; MALE; METABOLIC DISORDER; NUCLEOTIDE SEQUENCE; OSMOSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SITOSTEROLEMIA; STOMATOCYTOSIS; THROMBOCYTOPENIA;

ATP-BINDING CASSETTE TRANSPORTERS; ERYTHROCYTES, ABNORMAL; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYPERCHOLESTEROLEMIA; INTESTINAL DISEASES; LIPID METABOLISM, INBORN ERRORS; LIPOPROTEINS; MALE; MUTATION; OSMOTIC FRAGILITY; PEDIGREE; PHYTOSTEROLS; SITOSTEROLS; XANTHOMATOSIS;

EID: 84868550274     PISSN: 10760296     EISSN: 19382723     Source Type: Journal    
DOI: 10.1177/1076029611435090     Document Type: Article

References (22)

1. Bhattacharyya AK, Connor WE. Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. J Clin Invest. 1974 ; 53 (4). 1033-1043
2. Kidambi S, Patel SB. Sitosterolaemia: pathophysiology, clinical presentation and laboratory diagnosis. J Clin Pathol. 2008 ; 61 (5). 588-594 (Pubitemid 351678209)
3. Berge KE, Tian H, Graf GA, et al. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Science. 2000 ; 290 (5497). 1771-1775 (Pubitemid 32004809)
4. Lu K, Lee MH, Hazard S, et al. Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively. Am J Hum Genet. 2001 ; 69 (2). 278-290 (Pubitemid 32695201)
5. Lee MH, Lu K, Hazard S, et al. Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. Nat Genet. 2001 ; 27 (1). 79-83 (Pubitemid 32044523)
6. Salen G, Shefer S, Nguyen L, Ness GC, Tint GS, Shore V. Sitosterolemia. J Lipid Res. 1992 ; 33 (7). 945-955
7. Miettinen TA. Phytosterolemia, xanthomatosis and premature atherosclerotic arterial disease: a case with high plant sterol absorption, impaired sterol elimination and low cholesterol synthesis. Eur J Clin Invest. 1980 ; 10 (1). 27
8. Salen G, Starc T, Sisk CM, Patel SB. Intestinal cholesterol absorption inhibitor ezetimibe added to cholestyramine for sitosterolemia and xanthomatosis. Gastroenterology. 2006 ; 130 (6). 1853-1857 (Pubitemid 43668834)
9. Su Y, Wang Z, Yang H, et al. Clinical and molecular genetic analysis of a family with sitosterolemia and co-existing erythrocyte and platelet abnormalities. Haematologica. 2006 ; 91 (10). 1392-1395 (Pubitemid 44569815)
10. Rees DC, Iolascon A, Carella M, et al. Stomatocytic hemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the hematological presentation of phytosterolemia. Br J Haematol. 2005 ; 130 (2). 297-309
11. Berger GM, Deppe WM, Marais AD, Biggs M. Phytosterolemia in three unrelated South African families. Postgrad Med J. 1994 ; 70 (827). 631-637 (Pubitemid 24276889)
12. Kasama T, Byun DS, Seyama Y. Quantitative analysis of sterols in serum by high-performance liquid chromatography. Application to the biochemical diagnosis of cerebrotendinous xanthomatosis. J Chromatogr. 1987 ; 400 (1). 241-246 (Pubitemid 17137430)
13. Togo M, Hashimoto Y, Iso ON, et al. Identification of a novel mutation for phytosterolemia. Genetic analysis of 2 cases. Clin Chim Acta. 2009 ; 401 (1-2). 165-169
14. Ducrou W, Kimber RJ. Stomatocytes, hemolytic anaemia and abdominal pain in Mediterranean migrants. Some examples of a new syndrome. Med J Aust. 1969 ; 2 (22). 1087-1091
15. Von Behrens WE. Mediterranean macrothrombocytopenia. Blood. 1975 ; 46 (2). 199-208
16. Stewart GW, Lloyd J, Pegel K. Mediterranean stomatocytosis/ macrothrombocytopenia: update from Adelaide, Australia. Br J Haematol. 2006 ; 132 (5). 660-661 (Pubitemid 43381607)
17. Evans DA, Metz J. Mediterranean macrothrombocytopenia revisited. Med J Aust. 1999 ; 171 (5). 277-278
18. Stewart GW, Makris M. Mediterranean macrothrombocytopenia and phytosterolemia/sitosterolaemia. Haematologica. 2008 ; 93 (2). e29
19. Kruit JK, Drayer AL, Bloks VW, et al. Plant sterols cause macrothrombocytopenia in a mouse model of sitosterolemia. J Biol Chem. 2008 ; 283 (10). 6281-6287
20. Chase TH, Lyons BL, Bronson RT, et al. The mouse mutation "thrombocytopenia and cardiomyopathy''(trac) disrupts Abcg5: a spontaneous single gene model for human hereditary phytosterolemia/sitosterolemia. Blood. 2010 ; 115 (6). 1267-1276
21. Parsons HG, Jamal R, Baylis B, Dias VC, Roncarl D. A marked and sustained reduction in LDL sterols by diet and cholestyramin in beta-sitosterolemia. Clin Invest Med. 1995 ; 18 (5). 389-400
22. Lütjohann D, von Bergmann K, Sirah W, et al. Long-term efficacy and safety of ezetimibe 10 mg in patients with homozygous sitosterolemia: a 2-year, open-label extension study. Int J Clin Pract. 2008 ; 62 (10). 1499-1510