A Comprehensive Review of Congenital Platelet Disorders, Thrombocytopenias and Thrombocytopathies

Overview

Journal Cureus

Specialty Biomedical Engineering

Date 2020 Dec 4

PMID 33274150

Citations 7

Authors

Gisha Mohan

Srikrishna V Malayala

Parth Mehta

Mamtha Balla

Affiliations

Soon will be listed here.

Abstract

Platelets play an important role in hemostasis through platelet plug formation by a phenomenon of adhesion; activation; secretion and aggregation. Defects in platelet hemostatic mechanisms can be congenital or acquired. Congenital platelet disorders are rare and manifestations range from asymptomatic to sometimes severe bleeding. The disorders arise due to diverse mechanisms. Congenital platelet disorders include thrombocytopathies and thrombocytopenia (platelet count <150 x 10/L) or thrombocytosis (platelet count > 450 x 10/L). Congenital thrombocytopathies include disorders of adhesion like von Willebrand's disease or Bernard-Soulier syndrome. The disorders of aggregation include congenital afibrinogenemia and Glanzmann thrombasthenia. Disorders of storage granules are gray platelet syndrome and Quebec platelet disorder. Congenital thrombocythopathy and thrombocytopenia often occur in conjunction. In this article, we have a detailed literature review of these rare thrombocytopathies, their presentation and treatment.

Citing Articles

Diffuse Mesenteric and Bowel Angiodysplasia: A Case Report.

Gumaa Albashari M, Abbad S, Turki Al Helal M, Almansour B Cureus. 2025; 16(12):e76039.

PMID: 39835021 PMC: 11743726. DOI: 10.7759/cureus.76039.

Patient with a history of Glanzmann thrombasthenia presented with chronic subdural hematoma: a case report study.

Hasanpour M, Mehdizadeh H Oxf Med Case Reports. 2024; 2024(2):omae004.

PMID: 38370496 PMC: 10873706. DOI: 10.1093/omcr/omae004.

The role of CREG1 in megakaryocyte maturation and thrombocytopoiesis.

Song H, Li J, Peng C, Liu D, Mei Z, Yang Z Int J Biol Sci. 2023; 19(11):3614-3627.

PMID: 37496998 PMC: 10367557. DOI: 10.7150/ijbs.78660.

Lentiviral gene therapy reverts GPIX expression and phenotype in Bernard-Soulier syndrome type C.

Martinez-Navajas G, Ceron-Hernandez J, Simon I, Lupianez P, Diaz-McLynn S, Perales S Mol Ther Nucleic Acids. 2023; 33:75-92.

PMID: 37416759 PMC: 10320622. DOI: 10.1016/j.omtn.2023.06.008.

Chronic Immune Platelet Activation Is Followed by Platelet Refractoriness and Impaired Contractility.

Andrianova I, Khabirova A, Ponomareva A, Peshkova A, Evtugina N, Le Minh G Int J Mol Sci. 2022; 23(13).

PMID: 35806341 PMC: 9266422. DOI: 10.3390/ijms23137336.

References

George J, Caen J, Nurden A . Glanzmann's thrombasthenia: the spectrum of clinical disease. Blood. 1990; 75(7):1383-95. View

Noris P, Arbustini E, Spedini P, Belletti S, Balduini C . A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV. Br J Haematol. 1999; 103(4):1004-13. DOI: 10.1046/j.1365-2141.1998.01100.x. View

French D . The molecular genetics of Glanzmann's thrombasthenia. Platelets. 2006; 9(1):5-20. DOI: 10.1080/09537109876951. View

Lopez J, Andrews R, Afshar-Kharghan V, Berndt M . Bernard-Soulier syndrome. Blood. 1998; 91(12):4397-418. View

Nurden A, Nurden P . Inherited defects of platelet function. Rev Clin Exp Hematol. 2002; 5(4):314-34; quiz following 431. DOI: 10.1046/j.1468-0734.2001.00052.x. View

Stevens R, Meyer S . Fanconi and Glanzmann: the men and their works. Br J Haematol. 2002; 119(4):901-4. DOI: 10.1046/j.1365-2141.2002.03812.x. View

Jantunen E . Inherited giant platelet disorders. Eur J Haematol. 1994; 53(4):191-6. DOI: 10.1111/j.1600-0609.1994.tb00187.x. View

DAndrea G, Colaizzo D, Vecchione G, Grandone E, Di Minno G, Margaglione M . Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients. Thromb Haemost. 2002; 87(6):1034-42. View

Bellucci S, Caen J . Congenital platelet disorders. Blood Rev. 1988; 2(1):16-26. DOI: 10.1016/0268-960x(88)90004-5. View

10.

Margaglione M, DAndrea G, Grandone E, Brancaccio V, Amoriello A, Di Minno G . Compound heterozygosity (554-589 del, C515-T transition) in the platelet glycoprotein Ib alpha gene in a patient with a severe bleeding tendency. Thromb Haemost. 1999; 81(4):486-92. View

11.

White J . Ultrastructural studies of the gray platelet syndrome. Am J Pathol. 1979; 95(2):445-62. PMC: 2042344. View

12.

Jacquelin B, Tuleja E, Kunicki T, Nurden P, Nurden A . Analysis of platelet membrane glycoprotein polymorphisms in Glanzmann thrombasthenia showed the French gypsy mutation in the alphaIIb gene to be strongly linked to the HPA-1b polymorphism in beta3. J Thromb Haemost. 2003; 1(3):573-5. DOI: 10.1046/j.1538-7836.2003.00107.x. View

13.

Lanza F . Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy). Orphanet J Rare Dis. 2006; 1:46. PMC: 1660532. DOI: 10.1186/1750-1172-1-46. View

14.

Jantunen E, Hanninen A, Naukkarinen A, Vornanen M, Lahtinen R . Gray platelet syndrome with splenomegaly and signs of extramedullary hematopoiesis: a case report with review of the literature. Am J Hematol. 1994; 46(3):218-24. DOI: 10.1002/ajh.2830460311. View

15.

Kirchmaier C, Pillitteri D . Diagnosis and Management of Inherited Platelet Disorders. Transfus Med Hemother. 2010; 37(5):237-246. PMC: 2980508. DOI: 10.1159/000320257. View

16.

Nurden A, Nurden P . The gray platelet syndrome: clinical spectrum of the disease. Blood Rev. 2006; 21(1):21-36. DOI: 10.1016/j.blre.2005.12.003. View

17.

DAndrea G, Chetta M, Margaglione M . Inherited platelet disorders: thrombocytopenias and thrombocytopathies. Blood Transfus. 2009; 7(4):278-92. PMC: 2782805. DOI: 10.2450/2009.0078-08. View

18.

Nurden A, Ruan J, Pasquet J, Gauthier B, Combrie R, Kunicki T . A novel 196Leu to Pro substitution in the beta3 subunit of the alphaIIbbeta3 integrin in a patient with a variant form of Glanzmann thrombasthenia. Platelets. 2002; 13(2):101-11. DOI: 10.1080/09537100220122466. View

19.

Nurden A . Glanzmann thrombasthenia. Orphanet J Rare Dis. 2006; 1:10. PMC: 1475837. DOI: 10.1186/1750-1172-1-10. View

20.

Maclachlan A, Watson S, Morgan N . Inherited platelet disorders: Insight from platelet genomics using next-generation sequencing. Platelets. 2016; 28(1):14-19. PMC: 5359778. DOI: 10.1080/09537104.2016.1195492. View