Diagnostic assessment of platelet disorders: What are the challenges to standardization?

Seminars in Thrombosis and Hemostasis

Volumn 35, Issue 2, 2009, Pages 131-138

  Pai, Menaka ^a   Hayward, Catherine P M ^a,b  

^a MCMASTER UNIVERSITY   (Canada)

^b HAMILTON REGIONAL LABORATORY MEDICINE PROGRAM   (Canada)

Author keywords

Bleeding scores; Laboratory diagnosis; Platelet disorders; Platelet function tests

Indexed keywords

15 HYDROXY 11ALPHA,9ALPHA EPOXYMETHANOPROSTA 5,13 DIENOIC ACID; ADENOSINE DIPHOSPHATE; ADENOSINE TRIPHOSPHATE; ADRENALIN; ARACHIDONIC ACID; COLLAGEN TYPE 1; GLYCOPROTEIN; MYOSIN; NONMUSCLE MYOSIN HEAVY CHAIN 9; NONSTEROID ANTIINFLAMMATORY AGENT; PROCOAGULANT; RISTOCETIN; SEROTONIN UPTAKE INHIBITOR; UNCLASSIFIED DRUG;

BLEEDING; BLOOD CLOTTING DISORDER; CAPILLARY RESISTANCE; CLINICAL ASSESSMENT TOOL; DIAGNOSTIC TEST; DISEASE ASSOCIATION; EPISTAXIS; GENE MUTATION; GENETIC ASSOCIATION; GINGIVA BLEEDING; HUMAN; LABORATORY TEST; MENORRHAGIA; PRACTICE GUIDELINE; PRIORITY JOURNAL; PROTEIN ANALYSIS; REVIEW; STANDARDIZATION; THROMBOCYTE AGGREGATION; THROMBOCYTE DISORDER; WISKOTT ALDRICH SYNDROME; BLOOD; BLOOD CLOTTING PARAMETERS; BLOOD CLOTTING TEST; STANDARD;

BLOOD COAGULATION TESTS; BLOOD PLATELET DISORDERS; HUMANS; PLATELET FUNCTION TESTS;

EID: 67349085301     PISSN: 00946176     EISSN: 10989064     Source Type: Journal    
DOI: 10.1055/s-0029-1220321     Document Type: Review

References (53)

1. Watson HG, Greaves M. Can we predict bleeding? Semin Thromb Hemost 2008;34:97-103
2. Rodeghiero F, Kadir RA, Tosetto A, James PD. Relevance of quantitative assessment of bleeding in haemorrhagic disorders. Haemophilia 2008;14(Suppl 3):68-75 (Pubitemid 351722386)
3. Tosetto A, Castaman G, Rodeghiero F. Bleeding scores in inherited bleeding disorders: clinical or research tools? Haemophilia 2008;14:415-422
4. Kouides PA. Bleeding symptom assessment and hemostasis evaluation of menorrhagia. Curr Opin Hematol 2008;15: 465-472
5. Favaloro E. Internal quality control and external quality assurance of platelet function tests. Semin Thromb Hemost 2009;35:139-149
6. Harrison P, Mumford A. Screening tests of platelet function: update on their appropriate uses for diagnostic testing. Semin Thromb Hemost 2009;35:150-157
7. Israels SJ. Diagnostic evaluation of platelet function disorders in neonates and children: an update. Semin Thromb Hemost 2009;35:181-188
8. Althaus K, Greinacher A. MYH9-related platelet disorders. Semin Thromb Hemost 2009;35:189-203
9. Cattaneo M. Light transmission aggregometry and ATP release for the diagnostic assessment of platelet function. Semin Thromb Hemost 2009;35:158-167
10. McGlasson D, Fritsma G. Whole blood platelet aggregometry and platelet function testing. Semin Thromb Hemost 2009;35:168-180
11. Nurden AT, Fiore M, Pillois X, Nurden P. Genetic testing in the diagnostic evaluation of inherited platelet disorders. Semin Thromb Hemost 2009;35:204-212
12. Weiss HJ. Impaired platelet procoagulant mechanisms in patients with bleeding disorders. Semin Thromb Hemost 2009;35:233-241
13. Miller J. Glycoprotein analysis for the diagnostic evaluation of platelet disorders. Semin Thromb Hemost 2009;35:224-232
14. Clauser S, Cramer-Borde EM. Role of platelet electron microscopy in the diagnosis of platelet disorders. Semin Thromb Hemost 2009;35:213-223
15. Mezzano D, Quiroga T, Pereira J. The level of laboratory testing required for diagnosis or exclusion of a platelet function defect using platelet aggregation and secretion assays. Semin Thromb Hemost 2009;35:242-254
16. Hayward CP, Rao AK, Cattaneo M. Congenital platelet disorders: overview of their mechanisms, diagnostic evaluation and treatment. Haemophilia 2006;12(Suppl 3):128-136
17. McKay H, Derome F, Haq MA, et al. Bleeding risks associated with inheritance of the Quebec platelet disorder. Blood 2004;104:159-165 (Pubitemid 38879852)
18. Quiroga T, Goycoolea M, Munoz B, et al. Template bleeding time and PFA-100 have low sensitivity to screen patients with hereditary mucocutaneous hemorrhages: comparative study in 148 patients. J Thromb Haemost 2004;2:892-898 (Pubitemid 40185736)
19. Hayward CP, Pai M, Liu Y, et al. Diagnostic utility of light transmission platelet aggregometry: results from a prospective study of individuals referred for bleeding disorder assessments. J Thromb Haemost 2009; January 7 (Epub ahead of print)
20. James AH, Ragni MV, Picozzi VJ. Bleeding disorders in premenopausal women: (another) public health crisis for hematology? Hematology Am Soc Hematol Educ Program 2006:474-485
21. Philipp CS, Dilley A, Miller CH, et al. Platelet functional defects in women with unexplained menorrhagia. J Thromb Haemost 2003;1:477-484
22. Nurden P, Nurden AT. Congenital disorders associated with platelet dysfunctions. Thromb Haemost 2008;99:253-263 (Pubitemid 351230953)
23. Weinrieb RM, Auriacombe M, Lynch KG, Lewis JD. Selective serotonin re-uptake inhibitors and the risk of bleeding. Expert Opin Drug Saf 2005;4:337-344 (Pubitemid 40867343)
24. Gunay-Aygun M, Huizing M, Gahl WA. Molecular defects that affect platelet dense granules. Semin Thromb Hemost 2004;30:537-547 (Pubitemid 39426386)
25. Kaplan J, De Domenico I, Ward DM. Chediak-Higashi syndrome. Curr Opin Hematol 2008;15:22-29
26. Karim MA, Suzuki K, Fukai K, et al. Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. Am J Med Genet 2002;108:16-22
27. Mehdizadeh M, Zamani G. Griscelli syndrome: a case report. Pediatr Hematol Oncol 2007;24:525-529
28. Seri M, Cusano R, Gangarossa S, et al. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. Nat Genet 2000;26:103-105 (Pubitemid 30692867)
29. Greenhalgh KL, Howell RT, Bottani A, et al. Thrombocytopenia- absent radius syndrome: a clinical genetic study. J Med Genet 2002;39:876-881 (Pubitemid 36009148)
30. Miller CH, Graham JB, Goldin LR, Elston RC. Genetics of classic von Willebrand's disease. II. Optimal assignment of the heterozygous genotype (diagnosis) by discriminant analysis. Blood 1979;54:137-145
31. Wahlberg T, Blomback M, Hall P, Axelsson G. Application of indicators, predictors and diagnostic indices in coagulation disorders. I. Evaluation of a self-administered questionnaire with binary questions. Methods Inf Med 1980;19:194-200
32. Nosek-Cenkowska B, Cheang MS, Pizzi NJ, Israels ED, Gerrard JM. Bleeding/bruising symptomatology in children with and without bleeding disorders. Thromb Haemost 1991;65:237-241
33. Khellaf M, Michel M, Schaeffer A, Bierling P, Godeau B. Assessment of a therapeutic strategy for adults with severe autoimmune thrombocytopenic purpura based on a bleeding score rather than platelet count. Haematologica 2005;90:829-832 (Pubitemid 40897225)
34. Diamandis M, Veljkovic DK, Maurer-Spurej E, Rivard GE, Hayward CP. Quebec platelet disorder: features, pathogenesis and treatment. Blood Coagul Fibrinolysis 2008;19:109-119 (Pubitemid 351252988)
35. Diamandis M, Paterson AD, Rommens JM, et al. Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes. Blood 2009;113:1543-1546
36. Veljkovic DK, Rivard GE, Diamandis M, Blavignac J, Cramer-Borde EM, Hayward CP. Increased expression of urokinase plasminogen activator in Quebec platelet disorder is linked to megakaryocyte differentiation. Blood 2009;113:1535-1542
37. Sramek A, Eikenboom JC, Briet E, Vandenbroucke JP, Rosendaal FR. Usefulness of patient interview in bleeding disorders. Arch Intern Med 1995;155:1409-1415
38. Tosetto A, Rodeghiero F, Castaman G, et al. A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD). J Thromb Haemost 2006;4:766-773 (Pubitemid 44400291)
39. Hedlund-Treutiger I, Revel-Vilk S, Blanchette VS, Curtin JA, Lillicrap D, Rand ML. Reliability and reproducibility of classification of children as "bleeders" versus "non-bleeders" using a questionnaire for significant mucocutaneous bleeding. J Pediatr Hematol Oncol 2004;26:488-491
40. Castaman G, Rodeghiero F, Tosetto A, et al. Hemorrhagic symptoms and bleeding risk in obligatory carriers of type 3 von Willebrand disease: an international, multicenter study. J Thromb Haemost 2006;4:2164-2169 (Pubitemid 44400291)
41. Schulman S, Eelde A, HolmstromM, Stahlberg G, Odeberg J, Blomback M. Validation of a composite score for clinical severity of hemophilia. J Thromb Haemost 2008;6:1113-1121 (Pubitemid 351859120)
42. Sharathkumar A, Hardesty B, Greist A, et al. Variability in bleeding phenotype in Amish carriers of haemophilia B with the 31008 C→T mutation. Haemophilia 2009;15:91-100
43. Quiroga T, Goycoolea M, Panes O, et al. High prevalence of bleeders of unknown cause among patients with inherited mucocutaneous bleeding. A prospective study of 280 patients and 299 controls. Haematologica 2007;92:357-365
44. Hayward CP, Eikelboom J. Platelet function testing: quality assurance. Semin Thromb Hemost 2007;33:273-282 (Pubitemid 46581382)
45. Hayward CP, Harrison P, Cattaneo M, Ortel TL, Rao AK. Platelet function analyzer (PFA)-100 closure time in the evaluation of platelet disorders and platelet function. J Thromb Haemost 2006;4:312-319
46. Michelson AD, Cattaneo M, Eikelboom JW, et al. Aspirin resistance: position paper of the Working Group on Aspirin Resistance. J Thromb Haemost 2005;3:1309-1311 (Pubitemid 41725257)
47. Christie DJ, Avari T, Carrington LR, et al. Platelet Function Testing by Aggregometry; Approved Guideline. Wayne, PA: Clinical and Laboratory Standards Institute; . 2008; 28(31):1-45Available at: www.clsi.org. Accessed March 30, 2009
48. Guidelines on platelet function testing. The British Society for Haematology BCSH Haemostasis and Thrombosis Task Force. J Clin Pathol 1988;41:1322-1330
49. Hayward CP, Moffat KA, Spitzer E, et al. Results of an external proficiency testing exercise on platelet dense granule deficiency testing by whole mount electron microscopy. Am J Clin Pathol 2009;131:671-675
50. Hayward CP, Moffat KA, Pai M, et al. An evaluation of methods for determining reference intervals for light transmission platelet aggregation tests on samples with normal or reduced platelet counts. Thromb Haemost 2008;100:134-145 (Pubitemid 351948755)
51. Moffat KA, Ledford-Kraemer MR, Nichols WL, Hayward CP. Variability in clinical laboratory practice in testing for disorders of platelet function: results of two surveys of the North American Specialized Coagulation Laboratory Association. Thromb Haemost 2005;93:549-553
52. Jennings I, Woods TA, Kitchen S, Walker ID. Platelet function testing: practice among UK National External Quality Assessment Scheme for Blood Coagulation participants, 2006. J Clin Pathol 2008;61:950-954
53. Duncan EM, Bonar R, Rodgers SE, Favaloro EJ, Marsden K. Methodology and outcomes of platelet aggregation testing in Australia, New Zealand and the Asia-Pacific region: results of a survey from the Royal College of Pathologists of Australasia Haematology Quality Assurance Program. Int J Lab Hematol 2008; March 21 (Epub ahead of print)