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Macrothrombocytopenia

MedGen UID:
414334
Concept ID:
C2751260
Disease or Syndrome
Synonym: Macrothrombozytopenia
 
HPO: HP:0040185

Term Hierarchy

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).
Autosomal dominant nonsyndromic hearing loss 1
MedGen UID:
343767
Concept ID:
C1852282
Disease or Syndrome
DFNA1 is an autosomal dominant form of progressive hearing loss with onset in the first decade. Some patients have mild thrombocytopenia and enlarged platelets, although most of these individuals do not have significant bleeding tendencies (summary by Neuhaus et al., 2017).
Platelet-type bleeding disorder 17
MedGen UID:
396078
Concept ID:
C1861194
Disease or Syndrome
Platelet-type bleeding disorder-17 is an autosomal dominant disorder characterized by increased bleeding tendency due to abnormal platelet function. It is a type of 'gray platelet syndrome' because the platelets appear abnormal on light microscopy. Electron microscopy shows decreased or absent alpha-granules within platelets, and bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The bleeding severity is variable (summary by Monteferrario et al., 2014).
SLC35A1-congenital disorder of glycosylation
MedGen UID:
370234
Concept ID:
C1970344
Disease or Syndrome
An extremely rare form of carbohydrate deficient glycoprotein syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.
Platelet-type bleeding disorder 19
MedGen UID:
863842
Concept ID:
C4015405
Disease or Syndrome
A rare isolated hereditary giant platelet disorder characterized by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestation are recurrent bleeding episodes including epistaxis, spontaneous hematomas, and menorrhagia.
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.
Macrothrombocytopenia, isolated, 1, autosomal dominant
MedGen UID:
1811721
Concept ID:
C5676892
Disease or Syndrome
Autosomal dominant isolated macrothrombocytopenia-1 (MACTHC1) is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes. Affected individuals do not have increased bleeding episodes and platelet function is normal; macrothrombocytopenia is usually an incidental laboratory finding (Kunishima et al., 2009). Genetic Heterogeneity of Isolated Macrothrombocytopenia See also MACTHC2 (619840), caused by mutation in the TUBA8 gene (605742) on chromosome 22q11.
Macrothrombocytopenia, isolated, 2, autosomal dominant
MedGen UID:
1802965
Concept ID:
C5676968
Disease or Syndrome
Autosomal dominant isolated macrothrombocytopenia-2 (MACTHC2) is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes. Affected individuals do not have increased bleeding episodes; macrothrombocytopenia is usually an incidental laboratory finding (Kimmerlin et al., 2022) For a discussion of genetic heterogeneity of MACTHC, see MACTHC1 (613112).

Professional guidelines

PubMed

Lambert MP
Hematol Oncol Clin North Am 2019 Jun;33(3):471-487. Epub 2019 Apr 2 doi: 10.1016/j.hoc.2019.01.008. PMID: 31030814
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
Escolà-Gil JC, Quesada H, Julve J, Martín-Campos JM, Cedó L, Blanco-Vaca F
Curr Atheroscler Rep 2014 Jul;16(7):424. doi: 10.1007/s11883-014-0424-2. PMID: 24821603

Recent clinical studies

Etiology

Nurden AT, Nurden P
Haematologica 2020 Aug;105(8):2004-2019. Epub 2020 Jun 11 doi: 10.3324/haematol.2019.233197. PMID: 32527953Free PMC Article
Furlano M, Arlandis R, Venegas MDP, Novelli S, Crespi J, Bullich G, Ayasreh N, Remacha Á, Ruiz P, Lorente L, Ballarín J, Matamala A, Ars E, Torra R
Nefrologia (Engl Ed) 2019 Mar-Apr;39(2):133-140. Epub 2018 Nov 22 doi: 10.1016/j.nefro.2018.08.008. PMID: 30471777
Noris P, Pecci A
Hematology Am Soc Hematol Educ Program 2017 Dec 8;2017(1):385-399. doi: 10.1182/asheducation-2017.1.385. PMID: 29222283Free PMC Article
Ajagbe BO, Othman RA, Myrie SB
J AOAC Int 2015 May-Jun;98(3):716-723. Epub 2015 May 4 doi: 10.5740/jaoacint.SGEAjagbe. PMID: 25941971Free PMC Article
Althaus K, Greinacher A
Semin Thromb Hemost 2009 Mar;35(2):189-203. Epub 2009 Apr 30 doi: 10.1055/s-0029-1220327. PMID: 19408192

Diagnosis

Furlano M, Arlandis R, Venegas MDP, Novelli S, Crespi J, Bullich G, Ayasreh N, Remacha Á, Ruiz P, Lorente L, Ballarín J, Matamala A, Ars E, Torra R
Nefrologia (Engl Ed) 2019 Mar-Apr;39(2):133-140. Epub 2018 Nov 22 doi: 10.1016/j.nefro.2018.08.008. PMID: 30471777
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
Escolà-Gil JC, Quesada H, Julve J, Martín-Campos JM, Cedó L, Blanco-Vaca F
Curr Atheroscler Rep 2014 Jul;16(7):424. doi: 10.1007/s11883-014-0424-2. PMID: 24821603
Andrews RK, Berndt MC
Semin Thromb Hemost 2013 Sep;39(6):656-62. Epub 2013 Aug 8 doi: 10.1055/s-0033-1353390. PMID: 23929303
Althaus K, Greinacher A
Semin Thromb Hemost 2009 Mar;35(2):189-203. Epub 2009 Apr 30 doi: 10.1055/s-0029-1220327. PMID: 19408192

Therapy

Diallo S, Demulder A, Freson K, Ferster A, Rozen L
Br J Haematol 2021 Sep;194(5):804. Epub 2021 Apr 26 doi: 10.1111/bjh.17518. PMID: 33901316
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
Ajagbe BO, Othman RA, Myrie SB
J AOAC Int 2015 May-Jun;98(3):716-723. Epub 2015 May 4 doi: 10.5740/jaoacint.SGEAjagbe. PMID: 25941971Free PMC Article
Escolà-Gil JC, Quesada H, Julve J, Martín-Campos JM, Cedó L, Blanco-Vaca F
Curr Atheroscler Rep 2014 Jul;16(7):424. doi: 10.1007/s11883-014-0424-2. PMID: 24821603
Wang G, Cao L, Wang Z, Jiang M, Sun X, Bai X, Ruan C
Clin Appl Thromb Hemost 2012 Nov;18(6):582-7. Epub 2012 Jan 31 doi: 10.1177/1076029611435090. PMID: 22297561

Prognosis

Çalışkaner ZO, Abdul Waheed A, Tuzlakoğlu Öztürk M, Oymak Y, Tazebay UH, Akar N, Kandilci A, Torun Özkan D
Turk J Med Sci 2021 Apr 30;51(2):490-500. doi: 10.3906/sag-2003-259. PMID: 32892537Free PMC Article
Bury L, Megy K, Stephens JC, Grassi L, Greene D, Gleadall N, Althaus K, Allsup D, Bariana TK, Bonduel M, Butta NV, Collins P, Curry N, Deevi SVV, Downes K, Duarte D, Elliott K, Falcinelli E, Furie B, Keeling D, Lambert MP, Linger R, Mangles S, Mapeta R, Millar CM, Penkett C, Perry DJ, Stirrups KE, Turro E, Westbury SK, Wu J, BioResource N, Gomez K, Freson K, Ouwehand WH, Gresele P, Simeoni I
Hum Mutat 2020 Jan;41(1):277-290. Epub 2019 Oct 15 doi: 10.1002/humu.23927. PMID: 31562665Free PMC Article
Vincenot A, Saultier P, Kunishima S, Poggi M, Hurtaud-Roux MF, Roussel A, Actn Study Coinvestigators, Schlegel N, Alessi MC
Hum Mutat 2019 Dec;40(12):2258-2269. Epub 2019 Nov 6 doi: 10.1002/humu.23840. PMID: 31237726Free PMC Article
Kunishima S, Saito H
Curr Opin Hematol 2010 Sep;17(5):405-10. doi: 10.1097/MOH.0b013e32833c069c. PMID: 20601875
Lanza F
Orphanet J Rare Dis 2006 Nov 16;1:46. doi: 10.1186/1750-1172-1-46. PMID: 17109744Free PMC Article

Clinical prediction guides

Delage L, Carbone F, Riller Q, Zachayus JL, Kerbellec E, Buzy A, Stolzenberg MC, Luka M, de Cevins C, Kalouche G, Favier R, Michel A, Meynier S, Corneau A, Evrard C, Neveux N, Roudières S, Pérot BP, Fusaro M, Lenoir C, Pellé O, Parisot M, Bras M, Héritier S, Leverger G, Korganow AS, Picard C, Latour S, Collet B, Fischer A, Neven B, Magérus A, Ménager M, Pasquier B, Rieux-Laucat F
Nat Commun 2023 Jun 22;14(1):3728. doi: 10.1038/s41467-023-39295-7. PMID: 37349339Free PMC Article
Marín-Quílez A, Di Buduo CA, Benito R, Balduini A, Rivera J, Bastida JM
Platelets 2023 Dec;34(1):2176699. Epub 2023 Feb 27 doi: 10.1080/09537104.2023.2176699. PMID: 36846897
Çalışkaner ZO, Abdul Waheed A, Tuzlakoğlu Öztürk M, Oymak Y, Tazebay UH, Akar N, Kandilci A, Torun Özkan D
Turk J Med Sci 2021 Apr 30;51(2):490-500. doi: 10.3906/sag-2003-259. PMID: 32892537Free PMC Article
Pluthero FG, Di Paola J, Carcao MD, Kahr WHA
Platelets 2018 Sep;29(6):632-635. Epub 2018 Jun 5 doi: 10.1080/09537104.2018.1478405. PMID: 29869935
Ajagbe BO, Othman RA, Myrie SB
J AOAC Int 2015 May-Jun;98(3):716-723. Epub 2015 May 4 doi: 10.5740/jaoacint.SGEAjagbe. PMID: 25941971Free PMC Article

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