Diagnosis and management of inherited platelet disorders

Transfusion Medicine and Hemotherapy

Volumn 37, Issue 5, 2010, Pages 237-246

  Kirchmaier, Carl Maximilian ^a   Pillitteri, Daniele ^a  

^a DEUTSCHE KLINIK FÜR DIAGNOSTIK   (Germany)

Author keywords

Diagnosis; Inherited platelet function disorders; Therapy

Indexed keywords

ADENOSINE PHOSPHATE; ADENOSINE TRIPHOSPHATE; ANTIFIBRINOLYTIC AGENT; COLLAGEN RECEPTOR; DESMOPRESSIN; RECOMBINANT BLOOD CLOTTING FACTOR 7A; TRANEXAMIC ACID;

BERNARD SOULIER DISEASE; BONE MARROW TRANSPLANTATION; CLINICAL ASSESSMENT; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; DRUG APPROVAL; DRUG EFFICACY; ENZYME DEFICIENCY; EPISTAXIS; GLANZMANN DISEASE; HEMATOMA; HUMAN; INHERITANCE; MENORRHAGIA; POINT MUTATION; REVIEW; THROMBOCYTE AGGREGATION; THROMBOCYTE COUNT; THROMBOCYTE DISORDER; THROMBOCYTOPATHY; THROMBOCYTOPENIA; VON WILLEBRAND DISEASE;

EID: 77957851698     PISSN: 16603796     EISSN: None     Source Type: Journal    
DOI: 10.1159/000320257     Document Type: Review

References (62)

1. Koscielny J, Ziemer S, Radtke H, Schmutzler M, Kiesewetter H, Salama A, von Tempelhoff GF: Pr-eoperative identification of patients with impaired (primary) haemostasis. A practical concept. Hämo-staseologie 2007;27:177-84
2. Scharf RE: Acquired platelet function disorders: pathogenesis, classification, frequency, diagnosis, clinical management. Hämostaseologie 2008;28: 299-311
3. Scharf RE: Congenital and acquired platelet function disorders. Hämostaseologie 2003;23:170-80
4. Nurden P, Nurden AT: Congenital disorders associated with platelet dysfunctions. Thromb Haemost 2008;99:253-63
5. Nurden At, Nurden P: Inherited disorders of platelets: an update. Curr Opin Hematol 2006;13:157-62
6. Rao AK: Inherited defects in platelet signaling mechanisms J Thromb Haemost 2003;1:671-81
7. Rao AK: Congenital disorders of platelet function: disorders of signal transduction and secretion. Am J Med Sci 1998;69-76
8. Nurden AT: Glanzmann thrombasthenia. Orpha-net J Rare Dis 2006;1:10
9. Caen JP: Glanzmann's thrombasthenia. Clin Hae-matol 1989;2:609-25
10. Wilcox DA, Wautier JL, Pidard D, Newman PJ: A single amino acid substitution flanking the fourth calcium binding domain of alpha IIb prevents maturation of the alpha IIb beta 3 integrin complex. J Biol Chem 1994;269:4450-7
11. Ruiz C, Liu CY, Sun QH, Sigaud-Fiks M, Fressin-aud E, Muller JY, Nurden P, Nurden AT, Newman PJ, Valentin N: A point mutation in the cysteine-rich domain of glycoprotein (GP) IIIa results in the expression of a GPIIb-IIIa (alphaIIbbeta3) in-tegrin receptor locked in a high-affinity state and a Glanzmann thrombasthenia-like phenotype. Blood 2001;98:2432-41
12. George JN, Caen JP, Nurden AT: Glanzmann's thrombasthenia: the spectrum of clinical disease. Blood 1990;75:1383-95
13. Kirchmaier CM, Schirmer A, Jablonka B, Meyer M, Just M, Breddin HK: Correlation of bleeding complications in patients with the number of platelet GPIIb-IIIa receptor in patients with thrombasthenia Glanzmann. Ann Haemat 1992;64:abstr 19
14. Nurden AT, George JN: Inherited abnormalities of the platelet menbrane: Glanzmann thrombasthe-nia, Bernard-Soulier syndrome, and other disorders; in Hemostasis and Thrombosis, 5th ed. Philadelphia, Lippincott, Williams and Wilkins, 2006, pp. 987-1010
15. De Marco L, Mazzucato M, Fabris F, De Roia D, Coser P, Girolami A, Vicente V, Ruggeri ZM: Variant Bernard-Soulier syndrome type bolzano. A congenital bleeding disorder due to a structural and functional abnormality of the platelet glyco-protein Ib-IX complex. J Clin Invest 1990;86:25-31
16. Kostopanagiotou G, Smyrniotis V, Arkadopoulos N, Contis J, Briassoulis G, Kostopanagiotou E: Anaesthetic and perioperative management of pae-diatric organ recipients in nontransplant surgery. Paediatr Anaesth 2003;13:754-63
17. Nurden AT, Caen JP: Specific roles for platelet surface glycoproteins in platelet function. Nature 1975;255:720-2
18. Lopez JA, Andrews RK, Afshar-Kharghan V, Berndt MC: Bernard-Soulier syndrome. Blood 1998;91:4397-418
19. Noris P, Arbustini E, Spedini P, Belletti S, Balduini CL: A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV. Br J Haematol 1998;103:1004-13
20. Kunishima S, Tomiyama Y, Honda S, Kurata Y, Kamiya T, Ozawa K, Saito H: Cys97→Tyr mutation in the glycoprotein IX gene associated with Bernard Soulier syndrome. Br J Haematol 1999;107:539-45
21. Hayashi T, Suzuki K, Akiba J, Yahagi A, Tajima K, Satoh S, Sasaki H: G→A transition at nucle-otide 2110 in the human platelet glycoprotein (GP) IX gene resulting in Ala139(ACC)→Thr(GCC) substitution. Jpn J Hum Genet 1997;42:369-71
22. Iwanaga M, Kunishima S, Ikeda S, Tomonaga M, Naoe T: Vulnerable mutation Trp126→stop of glycoprotein IX in Japanese Bernard-Soulier syndrome. Eur J Haematol 1998;60:264-6
23. Kenny D, Jonsson OG, Morateck PA, Montgomery RR: Naturally occurring mutations in glyc-oprotein Ibα that result in defective ligand binding and synthesis of a truncated protein. Blood 1998; 92:175-83
24. Margaglione M, D'Andrea G, Grandone E, Bran-caccio V, Amoriello A, Di Minno G: Compound heterozygosity (554-589 del, C515-T transition) in the platelet glycoprotein Ibalpha gene in a patient with a severe bleeding tendency. Thromb Haemost 1999;81:486-92
25. Koskela S, Partanen J, Salmi TT, Kekomaki R: Molecular characterization of two mutations in platelet glycoprotein (GP) Ib alpha in two Finnish Bernard-Soulier syndrome families. Eur J Haema-tol 1999;62:160-8
26. Koskela S, Javela K, Jouppila J, Juvonen E, Nyb-lom O, Partanen J, Kekomäki R: Variant Bernard-Soulier syndrome due to homozygous Asn45Ser mutation in the platelet glycoprotein (GP) IX in seven patients of five unrelated Finnish families. Eur J Haematol 1999;62:256-64
27. Antonucci JV, Martin ES, Hulick PJ, Joseph A, Martin SE: Bernard-Soulier syndrome: common ancestry in two African American families with the GP Ib α Leu129Pro mutation. Am J Hematol 2000;65:141-8
28. Moran N, Morateck PA, Deering A, Ryan M, Montgomery RR, Fitzgerald DJ, Kenny D: Surface expression of glycoprotein Ib alpha is dependent on glycoprotein Ib β: evidence from a novel mutation causing Bernard-Soulier syndrome. Blood 2000;96: 532-9
29. Savoia A, Balduini CL, Savino M, Noris P, Del Vecchio M, Perrotta S, Belletti S, Poggi, Iolascon A: Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. Blood 2001;97:1330-5
30. Lanza F: Bernard-Soulier syndrome (hemorrhag-iparous thrombocytic dystrophy). Orphanet J Rare Dis 2006;1:46
31. Weiss HJ, Meyer D, Rabinowitz R, Pietu G, Girma J-P, Vicic WJ, Rogers J: Pseudo-von Willebrand's disease: an intrinsic platelet defect with aggregation by unmodified human factor VIII/von Willebrand factor and enhanced adsorption of its high-molecular-weight multimers. N Engl J Med 1982;306:326
32. Miller JL, Cunningham D, Lyle VA, Finch CN: Mutation in the gene encoding the alpha chain of platelet glycopro-tein Ib in platelet-type von Wil-lebrand disease. Proc Natl Acad Sci \USA 1991;88: 4761-5
33. Nieuwenhuis HK, Akkerman JW, Houdijk WP, Sixma JJ: Human blood platelets showing no response to collagen fail to express surface glycopro-tein Ia. Nature 1985;318:470-2
34. Nieuwenhuis HK, Sakariassen KS, Houdijk WP, Nievelstein PF, Sixma JJ: Deficiency of platelet membrane glycoprotein Ia associated with a decreased platelet adhesion to subendothelium: a defect in platelet spreading. Blood 1986;68:692-5
35. Kehrel B, Balleisen L, Kokott R, Mesters R, Sten-zinger W, Clemetson KJ, van de Loo J: Deficiency of intact thrombospondin and membrane glycopro-tein Ia in platelets with defective collagen-induced aggregation and spontaneous loss of disorder. Blood 1988;71:1074-8
36. Moroi M, Jung SM, Okuma M, Shinmyozu K: A patient with platelets deficient in glycoprotein VI that lack both collagen-induced aggregation and adhesion. J Clin Invest 1989;84:1440-5
37. Ryo R, Yoshida A, Sugano W, Yasunaga M, Na-kayama K, Saigo K, Adachi M, Yamaguchi N, Okuma M: Deficiency of P62, a putative collagen receptor, in platelets from a patient with defective collagen-induced platelet aggregation. Am J He-matol 1992;39:25-31
38. Rao AK: Inherited defects in platelet signaling mechanisms. J Thromb Haemost 2003;1:671-81
39. Nurden P, Jandrot-Perrus M, Combrié R, Winck-ler J, Arocas V, Lecut C, Pasquet JM, Kunicki TJ, Nurden AT: Severe deficiency of glycoprotein VI in a patient with gray platelet syndrome. Blood 2004;104:107-14
40. Diaz-Ricart M, Tandon NN, Carretero M, Ordi-nas A, Bastida E, Jamieson GA: Platelets lacking functional CD36 (glycoprotein IV) show reduced adhesion to collagen in flowing whole blood. Blood 1993;82:491-6
41. Beer JH, Rabaglio M, Berchtold P, von Felten A, Clemetson KJ, Tsakiris DA, Kehrel B, Branden-berger S: Autoantibodies against the platelet glyco-proteins (GP) IIb/IIIa, Ia/IIa, and IV and partial deficiency in GPIV in a patient with a bleeding disorder and a defective platelet collagen interaction. Blood 1993;82:820-9
42. Yamamoto N, Ikeda H, Tandon NN, Herman J, Tomiyama Y, Mitani T, Sekiguchi S, Lipsky R, Kralisz U, Jamieson GA: A platelet membrane glycoprotein (GP) deficiency in healthy blood donors: Naka-platelets lack detectable GPIV (CD36). Blood 1990;76:1698-703
43. Shibata Y, Kim N, Morita S, Ishijima A, Okazaki S: Monoclonal antibody OKM5 and platelet alloan-tibody anti-Nak(a) have the same specificity. Proc Jpn Acad 1990;66:41
44. Weiss HJ, Lages B, Hoffmann T, Turitto VT: Correction of the platelet adhesion defect in delta-storage pool deficiency at elevated hematocrit-possible role of adenosine diphosphate. Blood 1996; 87:4214-22
45. Huizing M, Anikster Y, Gahl WA: Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesical formation and trafficking. Thromb Haemost 2001;86:233-45
46. Summerfield GP, Keenan JP, Brodie NJ, Belling-ham AJ: Bioluminescent assay of adenine nucle-otides: rapid analysis of ATP and ADP in red cells and platelets using the LKB luminometer. Clin Lab Haematol 1981;3:257-71
47. Hayward CP, Rivard GE, Kane WH, Drouin J, Zheng S, Moore JC, Kelton JG: An autosomal dominant, qualitative platelet disorder associated with multimerin deficiency, abnormalities in platelet factor V, thrombospondin, von Willebrand factor, and fibrinogen and an epinephrine aggregation defect. Blood 1996;87:4967-78
48. Hayward CP, Cramer EM, Kane WH, Zheng S, Bouchard M, Massé JM, Rivard GE: Studies of a second family with the Quebec platelet disorder: evidence that the degradation of the alpha-granule membrane and its soluble contents are not secondary to a defect in targeting proteins to alpha-granules. Blood 1997;89:1243-53
49. Kahr WHA, Zheng S, Sheth PM, et al.: Platelets from patients with the Quebec platelet disorder contain and secrete abnormal amounts of uroki-nase-type plas-minogen activator. Blood 2001;98: 257-265
50. White JG: Structural defects in inherited and giant platelet disorders. Adv Hum Genet 1990;19:133-234
51. Mhawech P, Saleem A: Inherited giant platelet disorders. Classification and literature review. Am J Clin Pathol 2000;113:176-190
52. Harrison P, Ault KA, Chapman S, Charie L, Davis B, Fujimoto K, Houwen B, Kunicka J, Lacombe F, Machin S, Raynor R, van Hove L, Onno W, van Assendelft OW: An inter laboratory study of a candidate reference method for platelet counting. Am J Clin Pathol 2001;115,448-59
53. Favaloro EJ: Clinical utility of the PFA-100. Semin Thromb Hemost 2008;34:709-33
54. Crescente M, Di Castelnuovo A, Iacoviello L, Ver-mylen J, Cerletti C, de Gaetano G: Response variability to aspirin as assessed by the platelet function analyzer (PFA)-100. Thromb Haemost 2008;99: 14-26
55. Jilma B: Platelet function analyzer (PFA-100): a tool to quantify congenital or acquired platelet dysfunction. J Lab Clin Med 2001;138:152-63
56. Hemker HC, Al Dieri R, De Smedt E, Béguin S: Thrombin generation, a function test of the haemo-static-thrombotic system. Thromb Haemost 2006; 96:553-61
57. Greinacher A, Kiefel V, Klüter H, Kroll H, Pötzsch B, Riess H: Recommendations for platelet transfusion by the Joint Thrombocyte Working Party of DGTI, GTH, DGHO. Dtsch Med Wochenschr 2006;131:2675-9
58. Poon MC, D'Oiron R, Von Depka M, Khair K, Né-grier C, Karafoulidou A, Huth-Kuehne A, Morfini M; International Data Collection on Recombinant Factor VIIa and Congenital Platelet Disorders Study Group: Prophylactic and therapeutic recom-binant factor VIIa administration to patients with Glanzmann's thrombasthenia: results of an international survey. J Thromb Haemost 2004;2:1096-103
59. NovoSeven®-recombinant factor VIIa Novo Nordisk's EU Package Insert
60. Poon MC: The evidence for the use of recombinant human activated factor VII in the treatment of bleeding patients with quantitative and qualitative platelet disorders. Transfus Med Rev 2007;21: 223-36
61. Zotz RB, Scharf RE: (Recombinant factor VIIa in patients with platelet function disorders or throm-bocytopenia). Hämostaseologie 2007;27:251-62
62. Almeida AM, Khair K, Hann I, Liesner R: The use of recombinant factor VIIa in children with inherited platelet function disorders. Br J Haematol 2003;121:477-81