Abstract
Inherited disorders of platelets are characterized by highly variable mucocutaneous bleeding manifestations and excessive hemorrhage following surgical procedures or trauma. They include patients who have decreased platelet counts, abnormal platelet function or a combination of both, in general reflecting underlying abnormalities that culminate in defective platelet production and function. Over the last two decades there has been an impressive increase in the number of genetic abnormalities identified as leading to inherited thrombocytopenias. In some of these patients platelets have impaired function as well. Most patients with inherited platelet function have mild to moderate bleeding manifestations. In the vast majority of patients suspected to have an inherited platelet function defect the molecular and genetic mechanisms are unknown. The platelet dysfunction in these patients arises by diverse mechanisms, including abnormalities in membrane glycoproteins, granules and their contents, platelet signaling and secretion mechanisms, thromboxane production pathways and in platelet procoagulant activities. The platelet dysfunction may arise due to mutation in a transcription factor (e.g. RUNX1) leading to abnormalities in multiple mechanisms involved in platelet production as well as in function. In this chapter, clinical and laboratory aspects of Inherited disorders of platelets are discussed.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Althaus K, Greinacher A. MYH9-related platelet disorders. Semin Thromb Hemost. 2009;35(2):189–203. PubMed PMID: 19408192.
Balduini CL, Pecci A, Noris P. Diagnosis and management of inherited thrombocytopenias. Semin Thromb Hemost. 2013a;39(2):161–71. PubMed PMID: 23397552.
Balduini CL, Savoia A, Seri M. Inherited thrombocytopenias frequently diagnosed in adults. J Thromb Haemost. 2013b;11(6):1006–19. PubMed PMID: 23510089.
Gunay-Aygun M, Huizing M, Gahl WA. Molecular defects that affect platelet dense granules. Semin Thromb Hemost. 2004;30(5):537–47. PubMed PMID: 15497096.
Kumar R, Kahr WHA. Congenital thrombocytopenia: clinical manifestations, laboratory abnormalities, and molecular defects of a heterogeneous group of conditions. In: Rao AK, editor. Hematology/oncology clinics of North America: disorders of the platelets. Philadelphia: Elsevier; 2013. p. 465–94. PubMed PMID: 23714308.
Noris P, Biino G, Pecci A, Civaschi E, Savoia A, Seri M, et al. Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders. Blood. 2014;124(6):e4–10. PubMed PMID: 24990887.
Pecci A, Gresele P, Klersy C, Savoia A, Noris P, Fierro T, et al. Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. Blood. 2010;116(26):5832–7. PubMed PMID: 20844233.
Pecci A, Barozzi S, D’Amico S, Balduini CL. Short-term eltrombopag for surgical preparation of a patient with inherited thrombocytopenia deriving from MYH9 mutation. Thromb Haemost. 2012;107(6):1188–9. PubMed PMID: 22398565.
Rajpurkar M, Chitlur M, Recht M, Cooper DL. Use of recombinant activated factor VII in patients with Glanzmann’s thrombasthenia: a review of the literature. Haemophilia. 2014;20(4):464–71. PubMed PMID: 24948404.
Rao AK. Congenital disorders of platelet function: disorders of signal transduction and secretion. Am J Med Sci. 1998;316:69–76.
Rao AK. Inherited platelet function disorders: overview and disorders of granules, secretion, and signal transduction. Hematol Oncol Clin N Am. 2013a;27(3):585–611. PubMed PMID: 23714313.
Rao AK. Spotlight on FLI1, RUNX1, and platelet dysfunction. Blood. 2013b;122(25):4004–6. PubMed PMID: 24335028.
Rao AK, Coller BS. Hereditary qualitative platelet disorders. In: Kaushansky K, Lichtman MA, Prchal JT, Levi MM, Press OW, Burns LJ, Caligiuri MA (editors) Williams Hematology. 9th ed. New York: McGraw Hill; 2016, pp. 2039–72.
Savoia A, Balduini CL, Savino M, Noris P, Del Vecchio M, Perrotta S, et al. Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. Blood. 2001;97(5):1330–5. PubMed PMID: 11222377.
Seward SL, Gahl WA. Hermansky-Pudlak syndrome: health care throughout life. Pediatrics. 2013;132(1):153–60. PubMed PMID: 23753089.
Songdej N, Rao AK. Hematopoietic transcription factor mutations and inherited platelet dysfunction. F1000Prime Rep. 2015;7:66. doi:10.12703/P7–66.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2016 Springer International Publishing Switzerland
About this chapter
Cite this chapter
Songdej, N., Rao, A.K. (2016). Inherited Platelet Disorders: Diagnosis and Management. In: Abutalib, S., Connors, J., Ragni, M. (eds) Nonmalignant Hematology. Springer, Cham. https://doi.org/10.1007/978-3-319-30352-9_17
Download citation
DOI: https://doi.org/10.1007/978-3-319-30352-9_17
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-30350-5
Online ISBN: 978-3-319-30352-9
eBook Packages: MedicineMedicine (R0)