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Decreased platelet glycoprotein IIb-IIIa

MedGen UID:
892761
Concept ID:
C4021767
Finding
Synonyms: Glanzmann thrombasthenia; Reduced level of platelet glycoprotein IIb/IIIa complex
 
HPO: HP:0001975

Definition

Decreased cell membrane concentration of glycoprotein IIb-IIIa. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased platelet glycoprotein IIb-IIIa

Conditions with this feature

Glanzmann thrombasthenia
MedGen UID:
52736
Concept ID:
C0040015
Disease or Syndrome
Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums. They may also develop red or purple spots on the skin caused by bleeding underneath the skin (petechiae) or swelling caused by bleeding within tissues (hematoma). Glanzmann thrombasthenia can also cause prolonged bleeding following injury, trauma, or surgery (including dental work). Women with this condition can have prolonged and sometimes abnormally heavy menstrual bleeding. Affected women also have an increased risk of excessive blood loss during pregnancy and childbirth.\n\nAbout a quarter of individuals with Glanzmann thrombasthenia have bleeding in the gastrointestinal tract, which often occurs later in life. Rarely, affected individuals have bleeding inside the skull (intracranial hemorrhage) or joints (hemarthrosis).\n\nThe severity and frequency of the bleeding episodes in Glanzmann thrombasthenia can vary greatly among affected individuals, even in the same family. Spontaneous bleeding tends to become less frequent with age.
Glanzmann thrombasthenia 2
MedGen UID:
1782592
Concept ID:
C5543273
Disease or Syndrome
Glanzmann thrombasthenia-2 (GT2) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. The abnormalities are related to quantitative or qualitative abnormalities of the GPIIb (607759)/IIIa platelet surface fibrinogen receptor complex resulting from mutations in the GPIIIa gene (Rosenberg et al., 1997). For a general phenotypic description and a discussion of genetic heterogeneity of Glanzmann thrombasthenia, see 273800.

Professional guidelines

PubMed

Sukhinina TS, Pevzner DV, Mazurov AV, Vlasik TN, Solovieva NG, Kostritca NS, Shakhnovich RM, Yavelov IS
Kardiologiia 2022 Apr 30;62(4):64-72. doi: 10.18087/cardio.2022.4.n2020. PMID: 35569165
Zhu X, Cao G
Clin Appl Thromb Hemost 2020 Jan-Dec;26:1076029620942594. doi: 10.1177/1076029620942594. PMID: 32727211Free PMC Article
Poon MC, Di Minno G, d'Oiron R, Zotz R
Transfus Med Rev 2016 Apr;30(2):92-9. Epub 2016 Jan 30 doi: 10.1016/j.tmrv.2016.01.001. PMID: 26968829

Recent clinical studies

Etiology

Sukhinina TS, Pevzner DV, Mazurov AV, Vlasik TN, Solovieva NG, Kostritca NS, Shakhnovich RM, Yavelov IS
Kardiologiia 2022 Apr 30;62(4):64-72. doi: 10.18087/cardio.2022.4.n2020. PMID: 35569165
Van Tuyl JS, Newsome AS, Hollis IB
Ann Pharmacother 2019 Jul;53(7):726-737. Epub 2019 Jan 16 doi: 10.1177/1060028018824640. PMID: 30646761
Poon MC, Di Minno G, d'Oiron R, Zotz R
Transfus Med Rev 2016 Apr;30(2):92-9. Epub 2016 Jan 30 doi: 10.1016/j.tmrv.2016.01.001. PMID: 26968829
Lee MS, Kong J
Curr Cardiol Rep 2015 Jun;17(6):44. doi: 10.1007/s11886-015-0596-6. PMID: 25911441
Ji X, Hou M
J Hematol Oncol 2011 Nov 4;4:44. doi: 10.1186/1756-8722-4-44. PMID: 22053759Free PMC Article

Diagnosis

Brusilovskaya K, Hofer BS, Simbrunner B, Eichelberger B, Lee S, Bauer DJM, Mandorfer M, Schwabl P, Panzer S, Reiberger T, Gremmel T
Thromb Haemost 2023 Dec;123(12):1140-1150. Epub 2023 Jul 30 doi: 10.1055/s-0043-1771187. PMID: 37517407
Capodanno D, Milluzzo RP, Angiolillo DJ
Ther Adv Cardiovasc Dis 2019 Jan-Dec;13:1753944719893274. doi: 10.1177/1753944719893274. PMID: 31823688Free PMC Article
Rezaeeyan H, Jaseb K, Alghasi A, Asnafi AA, Saki N
Blood Coagul Fibrinolysis 2017 Dec;28(8):617-622. doi: 10.1097/MBC.0000000000000646. PMID: 28654425
Montgomery RR, Flood VH
Hematology Am Soc Hematol Educ Program 2016 Dec 2;2016(1):670-677. doi: 10.1182/asheducation-2016.1.670. PMID: 27913545Free PMC Article
Jatzlauk G, Althaus K, Strobel U, Kiefel V, Wesche J, Muehlenberg K, Greinacher A, Bakchoul T
Transfusion 2016 Jan;56(1):67-72. Epub 2015 Sep 1 doi: 10.1111/trf.13284. PMID: 26331798

Therapy

Sukhinina TS, Pevzner DV, Mazurov AV, Vlasik TN, Solovieva NG, Kostritca NS, Shakhnovich RM, Yavelov IS
Kardiologiia 2022 Apr 30;62(4):64-72. doi: 10.18087/cardio.2022.4.n2020. PMID: 35569165
Lee MS, Kong J
Curr Cardiol Rep 2015 Jun;17(6):44. doi: 10.1007/s11886-015-0596-6. PMID: 25911441
Ostrowska M, Adamski P, Koziński M, Navarese EP, Fabiszak T, Grześk G, Paciorek P, Kubica J
Cardiol J 2014;21(5):458-64. Epub 2014 Feb 14 doi: 10.5603/CJ.a2014.0020. PMID: 24526503
Caudrillier A, Kessenbrock K, Gilliss BM, Nguyen JX, Marques MB, Monestier M, Toy P, Werb Z, Looney MR
J Clin Invest 2012 Jul;122(7):2661-71. Epub 2012 Jun 11 doi: 10.1172/JCI61303. PMID: 22684106Free PMC Article
Ji X, Hou M
J Hematol Oncol 2011 Nov 4;4:44. doi: 10.1186/1756-8722-4-44. PMID: 22053759Free PMC Article

Prognosis

Okeke CO, Amilo GI, Manafa PO, Ibeh NC
Tuberculosis (Edinb) 2023 Jan;138:102285. Epub 2022 Nov 24 doi: 10.1016/j.tube.2022.102285. PMID: 36436460
Puddu PE, Iannetta L, Placanica A, Cuturello D, Schiariti M, Manfrini O
Int J Cardiol 2016 Nov 1;222:1091-1096. Epub 2016 Aug 3 doi: 10.1016/j.ijcard.2016.07.207. PMID: 27522492
Bosch X, Marrugat J, Sanchis J
Cochrane Database Syst Rev 2013 Oct 18;(10):CD002130. doi: 10.1002/14651858.CD002130.pub3. PMID: 24136036
Osada J, Wereszczynska-Siemiatkowska U, Dabrowski A, Dabrowska MI
Pancreas 2012 Nov;41(8):1319-24. doi: 10.1097/MPA.0b013e31824bd89f. PMID: 22617709
Siu D
J Cardiovasc Med (Hagerstown) 2010 Jan;11(1):1-6. doi: 10.2459/JCM.0b013e32832e0af3. PMID: 19829140

Clinical prediction guides

Muravlev IA, Dobrovolsky AB, Antonova OA, Khaspekova SG, Alieva AK, Pevzner DV, Mazurov AV
Biomolecules 2023 Jul 14;13(7) doi: 10.3390/biom13071124. PMID: 37509160Free PMC Article
Hałucha KJ, Banaszkiewicz M, Rak-Pasikowska A, Bil-Lula I
Adv Clin Exp Med 2022 Dec;31(12):1375-1384. doi: 10.17219/acem/152286. PMID: 36135815
Ali-Hasan-Al-Saegh S, Mirhosseini SJ, Shahidzadeh A, Rahimizadeh E, Sarrafan-Chaharsoughi Z, Ghodratipour Z, Lotfaliani M, Rezaeisadrabadi M, Dehghan HR, Bireta C, Weymann A, Sabashnikov A, Popov AF
Kardiol Pol 2016;74(2):104-18. Epub 2015 Jul 23 doi: 10.5603/KP.a2015.0138. PMID: 26202532
Li J, Yu S, Qian D, He Y, Jin J
Medicine (Baltimore) 2015 Aug;94(32):e1067. doi: 10.1097/MD.0000000000001067. PMID: 26266343Free PMC Article
Elmouchi DA, Bates ER
Minerva Cardioangiol 2003 Oct;51(5):547-60. PMID: 14551523

Recent systematic reviews

Zhu X, Cao G
Clin Appl Thromb Hemost 2020 Jan-Dec;26:1076029620942594. doi: 10.1177/1076029620942594. PMID: 32727211Free PMC Article
Bosch X, Marrugat J, Sanchis J
Cochrane Database Syst Rev 2013 Nov 8;(11):CD002130. doi: 10.1002/14651858.CD002130.pub4. PMID: 24203004
Bosch X, Marrugat J, Sanchis J
Cochrane Database Syst Rev 2013 Oct 18;(10):CD002130. doi: 10.1002/14651858.CD002130.pub3. PMID: 24136036
Bosch X, Marrugat J, Sanchis J
Cochrane Database Syst Rev 2010 Sep 8;(9):CD002130. doi: 10.1002/14651858.CD002130.pub2. PMID: 20824831
Bosch X, Marrugat J
Cochrane Database Syst Rev 2001;(4):CD002130. doi: 10.1002/14651858.CD002130. PMID: 11687143

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