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Giant platelets

MedGen UID:
137700
Concept ID:
C0333864
Finding; Finding
Synonyms: Giant platelet; Giant Platelet; Megathrombocyte
SNOMED CT: Giant platelet (44687006); Megathrombocyte (44687006)
 
HPO: HP:0001902

Definition

Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGiant platelets

Conditions with this feature

Bernard Soulier syndrome
MedGen UID:
2212
Concept ID:
C0005129
Disease or Syndrome
Bernard-Soulier syndrome is an autosomal recessive bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor (VWF; 613160) receptor complex, glycoprotein Ib (GP Ib). GP Ib is composed of 4 subunits encoded by 4 separate genes: GP1BA, GP1BB, GP9, and GP5 (173511). Genetic Heterogeneity of Platelet-Type Bleeding Disorders Inherited platelet disorders are a heterogeneous group of bleeding disorders affecting platelet number, function, or both. Functional defects can involve platelet receptors, signaling pathways, cytoskeletal proteins, granule contents, activation, or aggregation (review by Cox et al., 2011 and Nurden and Nurden, 2011). Platelet-type bleeding disorders include Bernard-Soulier syndrome (BDPLT1); Glanzmann thrombasthenia (BDPLT2; 273800), caused by mutation in the ITGA2B (607759) or ITGB3 (173470) gene; pseudo-von Willebrand disease (BDPLT3; 177820), caused by mutation in the GP1BA gene (606672); gray platelet syndrome (BDPLT4; 139090), caused by mutation in the NBEAL2 gene (614169); Quebec platelet disorder (BDPLT5; 601709), caused by tandem duplication of the PLAU gene (191840); May-Hegglin anomaly (BDPLT6; 155100), caused by mutation in the MYH9 gene (160775); Scott syndrome (BDPLT7; 262890), caused by mutation in the TMEM16F gene (608663); BDPLT8 (609821), caused by mutation in the P2RY12 gene (600515); BDPLT9 (614200), associated with deficiency of the glycoprotein Ia/IIa receptor (see ITGA2; 192974); glycoprotein IV deficiency (BDPLT10; 608404), caused by mutation in the CD36 gene (173510); BDPLT11 (614201), caused by mutation in the GP6 gene (605546); BDPLT12 (605735), associated with a deficiency of platelet COX1 (176805); susceptibility to BDPLT13 (614009), caused by mutation in the TBXA2R gene (188070); BDPLT14 (614158), associated with deficiency of thromboxane synthetase (TBXAS1; 274180); BDPLT15 (615193), caused by mutation in the ACTN1 gene (102575); BDPLT16 (187800), caused by mutation in the ITGA2B (607759) or ITGB3 (173470) gene; BDPLT17 (187900), caused by mutation in the GFI1B gene (604383); BDPLT18 (615888), caused by mutation in the RASGRP2 gene (605577); BDPLT19 (616176), caused by mutation in the PRKACG gene (176893); BDPLT20 (616913), caused by mutation in the SLFN14 gene (614958); BDPLT21 (617443), caused by mutation in the FLI1 gene (193067); BDPLT22 (618462), caused by mutation in the EPHB2 gene (600997); BDPLT23 (619267), caused by mutation in the ITGB3 gene (173470); BDPLT24 (619271), caused by mutation in the ITGB3 gene (173470); and BDPLT25 (620486), caused by mutation in the TPM4 gene (600317). See reviews by Rao (2003), Cox et al. (2011), and Nurden and Nurden (2011). For a discussion of the genetic heterogeneity of hereditary thrombocytopenia, see THC1 (313900).
Pelger-Huët anomaly
MedGen UID:
10617
Concept ID:
C0030779
Disease or Syndrome
An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.
Platelet-type bleeding disorder 10
MedGen UID:
374856
Concept ID:
C1842090
Disease or Syndrome
Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the CD36 gene.
Sitosterolemia 1
MedGen UID:
440869
Concept ID:
C2749759
Disease or Syndrome
Sitosterolemia is characterized by: Hypercholesterolemia (especially in children) which (1) shows an unexpected significant lowering of plasma cholesterol level in response to low-fat diet modification or to bile acid sequestrant therapy; or (2) does not respond to statin therapy; Tendon xanthomas or tuberous (i.e., planar) xanthomas that can occur in childhood and in unusual locations (heels, knees, elbows, and buttocks); Premature atherosclerosis, which can lead to angina, aortic valve involvement, myocardial infarction, and sudden death; Hemolytic anemia, abnormally shaped erythrocytes (stomatocytes), and large platelets (macrothrombocytopenia). On occasion, the abnormal hematologic findings may be the initial presentation or the only clinical feature of this disorder. Arthritis, arthralgias, and splenomegaly may sometimes be seen and one study has concluded that "idiopathic" liver disease could be undiagnosed sitosterolemia. The clinical spectrum of sitosterolemia is probably not fully appreciated due to underdiagnosis and the fact that the phenotype in infants is likely to be highly dependent on diet.
COG1 congenital disorder of glycosylation
MedGen UID:
443957
Concept ID:
C2931011
Disease or Syndrome
An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the few cases reported to date, variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
MedGen UID:
1704278
Concept ID:
C5200934
Disease or Syndrome
MYH9-related disease (MYH9-RD) is characterized in all affected individuals by hematologic features present from birth consisting of platelet macrocytosis (i.e., >40% of platelets larger than 3.9 µm in diameter), thrombocytopenia (platelet count <150 x 109/L), and aggregates of the MYH9 protein in the cytoplasm of neutrophil granulocytes. Most affected individuals develop one or more additional extrahematologic manifestations of the disease over their lifetime, including sensorineural hearing loss, renal disease (manifesting initially as glomerular nephropathy), presenile cataracts, and/or elevation of liver enzymes.
Platelet-type bleeding disorder 16
MedGen UID:
1781222
Concept ID:
C5442010
Disease or Syndrome
Platelet-type bleeding disorder-16 (BDPLT16) is an autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities (summary by Kunishima et al., 2011 and Nurden et al., 2011). Genetic Heterogeneity of Glanzmann Thrombasthenia-like with Macrothromocytopenia See BDPLT24 (619271), caused by mutation in the ITGB3 gene (173470) on chromosome 17q21.32. Together the ITGB2B and ITBG3 genes form an integrin, known as platelet glycoprotein GPIIb/III, that is expressed on platelets.

Professional guidelines

PubMed

Bastida JM, Girós ML, Benito R, Janusz K, Hernández-Rivas JM, González-Porras JR
Curr Med Chem 2019;26(37):6766-6775. doi: 10.2174/0929867325666180705145900. PMID: 29984642
Rabbolini DJ, Chun Y, Latimer M, Kunishima S, Fixter K, Valecha B, Tan P, Chew LP, Kile BT, Burt R, Radhakrishnan K, Bird R, Ockelford P, Gabrielli S, Chen Q, Stevenson WS, Ward CM, Morel-Kopp MC
Platelets 2018 Dec;29(8):793-800. Epub 2017 Nov 1 doi: 10.1080/09537104.2017.1356920. PMID: 29090586
Balduini CL, Pecci A, Savoia A
Br J Haematol 2011 Jul;154(2):161-74. Epub 2011 May 4 doi: 10.1111/j.1365-2141.2011.08716.x. PMID: 21542825

Recent clinical studies

Etiology

Yasseen BA, Elkhodiry AA, El-Messiery RM, El-Sayed H, Elbenhawi MW, Kamel AG, Gad SA, Zidan M, Hamza MS, Al-Ansary M, Abdel-Rahman EA, Ali SS
Front Immunol 2022;13:1022401. Epub 2022 Nov 21 doi: 10.3389/fimmu.2022.1022401. PMID: 36479107Free PMC Article
Wu YF, Gu MH, Liu CZ, Huang WH, Chu SC, Wang TF
PLoS One 2022;17(11):e0278040. Epub 2022 Nov 21 doi: 10.1371/journal.pone.0278040. PMID: 36409726Free PMC Article
Rosa JP, Raslova H, Bryckaert M
Blood 2019 Oct 17;134(16):1279-1288. doi: 10.1182/blood.2019000014. PMID: 31471375
Singh N, Nainani N, Arora P, Venuto RC
Am J Kidney Dis 2009 Oct;54(4):732-40. Epub 2009 Sep 2 doi: 10.1053/j.ajkd.2009.06.023. PMID: 19726116
Kunishima S, Saito H
Blood Rev 2006 Mar;20(2):111-21. Epub 2005 Sep 19 doi: 10.1016/j.blre.2005.08.001. PMID: 16169642

Diagnosis

Wu YF, Gu MH, Liu CZ, Huang WH, Chu SC, Wang TF
PLoS One 2022;17(11):e0278040. Epub 2022 Nov 21 doi: 10.1371/journal.pone.0278040. PMID: 36409726Free PMC Article
Bastida JM, Girós ML, Benito R, Janusz K, Hernández-Rivas JM, González-Porras JR
Curr Med Chem 2019;26(37):6766-6775. doi: 10.2174/0929867325666180705145900. PMID: 29984642
Latger-Cannard V, Fenneteau O, Salignac S, Lecompte TP, Schlegel N
Methods Mol Biol 2013;992:207-25. doi: 10.1007/978-1-62703-339-8_16. PMID: 23546716
Singh N, Nainani N, Arora P, Venuto RC
Am J Kidney Dis 2009 Oct;54(4):732-40. Epub 2009 Sep 2 doi: 10.1053/j.ajkd.2009.06.023. PMID: 19726116
Kunishima S, Saito H
Blood Rev 2006 Mar;20(2):111-21. Epub 2005 Sep 19 doi: 10.1016/j.blre.2005.08.001. PMID: 16169642

Therapy

Qin M, Luo P, Wen X, Li J
J Clin Lipidol 2022 Jan-Feb;16(1):33-39. Epub 2021 Nov 19 doi: 10.1016/j.jacl.2021.11.004. PMID: 34887220
Bastida JM, Girós ML, Benito R, Janusz K, Hernández-Rivas JM, González-Porras JR
Curr Med Chem 2019;26(37):6766-6775. doi: 10.2174/0929867325666180705145900. PMID: 29984642
Rabbolini DJ, Chun Y, Latimer M, Kunishima S, Fixter K, Valecha B, Tan P, Chew LP, Kile BT, Burt R, Radhakrishnan K, Bird R, Ockelford P, Gabrielli S, Chen Q, Stevenson WS, Ward CM, Morel-Kopp MC
Platelets 2018 Dec;29(8):793-800. Epub 2017 Nov 1 doi: 10.1080/09537104.2017.1356920. PMID: 29090586
Ahn YS, Horstman LL
Int J Hematol 2002 Aug;76 Suppl 2:123-31. doi: 10.1007/BF03165102. PMID: 12430912
Aksoy M, Dinçol K, Akgün T, Erdem S, Dinçol G
Br J Ind Med 1971 Jul;28(3):296-302. doi: 10.1136/oem.28.3.296. PMID: 5557851Free PMC Article

Prognosis

Jain PV, Grover A, Nomani L
WMJ 2023 Dec;122(5):357-363. PMID: 38180924
Yasseen BA, Elkhodiry AA, El-Messiery RM, El-Sayed H, Elbenhawi MW, Kamel AG, Gad SA, Zidan M, Hamza MS, Al-Ansary M, Abdel-Rahman EA, Ali SS
Front Immunol 2022;13:1022401. Epub 2022 Nov 21 doi: 10.3389/fimmu.2022.1022401. PMID: 36479107Free PMC Article
Zvetkova E, Antonova N, Ivanov I, Savov Y, Gluhcheva Y
Clin Hemorheol Microcirc 2010;45(2-4):245-51. doi: 10.3233/CH-2010-1305. PMID: 20675906
Kunishima S, Saito H
Curr Opin Hematol 2010 Sep;17(5):405-10. doi: 10.1097/MOH.0b013e32833c069c. PMID: 20601875
Chan HL, Lee YS, Kuo TT
Int J Dermatol 1994 Jun;33(6):425-32. doi: 10.1111/j.1365-4362.1994.tb04045.x. PMID: 8056477

Clinical prediction guides

Jain PV, Grover A, Nomani L
WMJ 2023 Dec;122(5):357-363. PMID: 38180924
Mekchay P, Ingrungruanglert P, Suphapeetiporn K, Sosothikul D, Ji-Au W, Maneesri Le Grand S, Israsena N, Rojnuckarin P
Thromb Haemost 2019 Sep;119(9):1461-1470. Epub 2019 Jul 28 doi: 10.1055/s-0039-1693409. PMID: 31352676
Wang Z, Zhao Q, Zhang D, Sun C, Bao C, Yi M, Xing L, Luo D
Blood Coagul Fibrinolysis 2016 Sep;27(6):667-72. doi: 10.1097/MBC.0000000000000455. PMID: 26588444
Zucker-Franklin D
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Recent systematic reviews

Jain PV, Grover A, Nomani L
WMJ 2023 Dec;122(5):357-363. PMID: 38180924
Peitsidis P, Datta T, Pafilis I, Otomewo O, Tuddenham EG, Kadir RA
Haemophilia 2010 Jul 1;16(4):584-91. Epub 2010 Jan 12 doi: 10.1111/j.1365-2516.2009.02137.x. PMID: 20070385

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