Vol 7, No 4 (2016)
Review paper
Published online: 2017-04-07

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Inherited platelet function disorders

Krzysztof Chojnowski
Hematologia 2016;7(4):287-294.

Abstract

Inherited platelet function disorders (IPFD) constitute a large group of diseases involving a wide range of genetic defects that can lead to bleeding symptoms of varying severity. They are associated with defects in surface membrane glycoproteins resulting in e.g. Bernard Soulier Syndrome and Glanzmann Thrombasthenia causing defects in platelet adhesion and aggregation, respectively, as well as in receptors for agonists (P2Y12), disrupting platelet signalling. Defects affecting platelet granules can be characterised by abnormalities of alpha-granules as in the Gray platelet syndrome or dense granules as in Hermansky-Pudlak and Chediak-Higashi syndromes. Finally, defects in proteins essential to signalling pathways (Ghosal syndrome) or in platelet-derived procoagulant activity (Scott and Stormorken syndromes) also impair platelet function. In some cases IPFD are associated with thrombocytopenia, giant platelets and various comorbidities. This review summa­rizes the state of the art of classification, clinical course, lab characteristic and treatment of IPFD.

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References

  1. Hayward CPM, Rao AK, Cattaneo M. Congenital platelet disorders: overview of their mechanisms, diagnostic evaluation and treatment. Haemophilia. 2006; 12 Suppl 3: 128–136.
  2. Ahmad F, Kannan M, Ranjan R, et al. Inherited platelet function disorders versus other inherited bleeding disorders: an Indian overview. Thromb Res. 2008; 121(6): 835–841.
  3. Leo VC, Morgan NV, Bem D, et al. UK GAPP Study Group. Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders. J Thromb Haemost. 2015; 13(4): 643–650.
  4. Israels SJ, El-Ekiaby M, Quiroga T, et al. Inherited disorders of platelet function and challenges to diagnosis of mucocutaneous bleeding. Haemophilia. 2010; 16 Suppl 5: 152–159.
  5. Gresele P. Subcommittee on Platelet Physiology of the International Society on Thrombosis and Hemostasis. Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH. J Thromb Haemost. 2015; 13(2): 314–322.
  6. López JA, Andrews RK, Afshar-Kharghan V, et al. Bernard-Soulier syndrome. Blood. 1998; 91(12): 4397–4418.
  7. Andrews RK, Berndt MC. Bernard-Soulier syndrome: an update. Semin Thromb Hemost. 2013; 39(6): 656–662.
  8. Farsinejad A, Abolghasemi H, Kazemi A, et al. Classification of Iranian patients with Glanzmann's Thrombasthenia using a flow cytometric method. Platelets. 2011; 22(5): 321–327.
  9. Solh T, Botsford A, Solh M. Glanzmann's thrombasthenia: pathogenesis, diagnosis, and current and emerging treatment options. J Blood Med. 2015; 6: 219–227.
  10. Nurden AT, Pillois X, Wilcox DA. Glanzmann thrombasthenia: state of the art and future directions. Semin Thromb Hemost. 2013; 39(6): 642–655.
  11. Othman M. Platelet-Type Von Willebrand Disease: A Rare, Often Misdiagnosed and Underdiagnosed Bleeding Disorder. Seminars in Thrombosis and Hemostasis. 2011; 37(05): 464–469.
  12. Enayat MS, Guilliatt AM, Lester W, et al. Distinguishing between type 2B and pseudo-von Willebrand disease and its clinical importance. Br J Haematol. 2006; 133(6): 664–666.
  13. Nurden AT, Nurden P. Congenital platelet disorders and understanding of platelet function. Br J Haematol. 2014; 165(2): 165–178.
  14. Masliah-Planchon J, Darnige L, Bellucci S. Molecular determinants of platelet delta storage pool deficiencies: an update. Br J Haematol. 2013; 160(1): 5–11.
  15. Bottega R, Pecci A, De Candia E, et al. Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency. Haematologica. 2013; 98(6): 868–874.
  16. Nurden AT, Nurden P. The gray platelet syndrome: clinical spectrum of the disease. Blood Rev. 2007; 21(1): 21–36.
  17. Hayward C, Rivard G. Quebec platelet disorder. Expert Review of Hematology. 2014; 4(2): 137–141.
  18. Blavignac J, Bunimov N, Rivard GE, et al. Quebec platelet disorder: update on pathogenesis, diagnosis, and treatment. Semin Thromb Hemost. 2011; 37(6): 713–720.
  19. Matus V, Valenzuela G, Sáez CG, et al. An adenine insertion in exon 6 of human GP6 generates a truncated protein associated with a bleeding disorder in four Chilean families. J Thromb Haemost. 2013; 11(9): 1751–1759.
  20. Watson SP, Lowe GC, Lordkipanidzé M, et al. GAPP consortium. Genotyping and phenotyping of platelet function disorders. J Thromb Haemost. 2013; 11 Suppl 1: 351–363.
  21. Cattaneo M. The platelet P2Y12 receptor for adenosine diphosphate: congenital and drug-induced defects. Blood. 2010; 117(7): 2102–2112.
  22. Halliez M, Fouassier M, Robillard N, et al. Detection of phosphatidyl serine on activated platelets' surface by flow cytometry in whole blood: a simpler test for the diagnosis of Scott syndrome. Br J Haematol. 2015 [Epub ahead of print].
  23. Misceo D, Holmgren A, Louch WE, et al. A dominant STIM1 mutation causes Stormorken syndrome. Hum Mutat. 2014; 35(5): 556–564.
  24. Di Minno G, Zotz RB, d'Oiron R, et al. Glanzmann Thrombasthenia Registry Investigators. The international, prospective Glanzmann Thrombasthenia Registry: treatment modalities and outcomes of non-surgical bleeding episodes in patients with Glanzmann thrombasthenia. Haematologica. 2015; 100(8): 1031–1037.
  25. Poon MC, d'Orion R, Zotz RB. Glanzmann Thrombasthenia Registry Investigators. The international, prospective Glanzmann Thrombasthenia Registry: treatment and outcomes in surgical intervention. Haematologica. 2015; 100: 1038–1044.
  26. Wiegering V, Sauer K, Winkler B, et al. Indication for allogeneic stem cell transplantation in Glanzmann's thrombasthenia. Hamostaseologie. 2013; 33(4): 305–312.



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