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Platelet disorder, undefined

MedGen UID:
401405
Concept ID:
C1868258
Disease or Syndrome
Synonym: Platelet Disorder, Undefined
 
Monarch Initiative: MONDO:0008254
OMIM®: 173420

Clinical features

From HPO
Neuroblastoma
MedGen UID:
18012
Concept ID:
C0027819
Neoplastic Process
ALK-related neuroblastic tumor susceptibility is characterized by increased risk for neuroblastic tumors including neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. Neuroblastoma is a more malignant tumor and ganglioneuroma a more benign tumor. Depending on the histologic findings, ganglioneuroblastoma can behave in a more aggressive fashion, like neuroblastoma, or in a benign fashion, like ganglioneuroma. Preliminary data from the ten reported families with ALK-related neuroblastic tumor susceptibility suggest an overall penetrance of approximately 57% with the risk for neuroblastic tumor development highest in infancy and decreasing by late childhood.
Hematologic neoplasm
MedGen UID:
138213
Concept ID:
C0376545
Neoplastic Process
Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue).
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Prolonged bleeding time
MedGen UID:
56231
Concept ID:
C0151529
Finding
Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.
Abnormal bleeding
MedGen UID:
264316
Concept ID:
C1458140
Pathologic Function
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
Impaired platelet aggregation
MedGen UID:
383786
Concept ID:
C1855853
Finding
An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.

Professional guidelines

PubMed

Pon TK, Mahajan A, Rosenberg A, Amin A, Shah D, Jenkins I, Gupta V, Hofmann H, Bejjani A, White R
J Thromb Thrombolysis 2018 May;45(4):536-542. doi: 10.1007/s11239-018-1646-x. PMID: 29574610
Giglio RV, Patti AM, Cicero AFG, Lippi G, Rizzo M, Toth PP, Banach M
Curr Pharm Des 2018;24(2):239-258. doi: 10.2174/1381612824666180130112652. PMID: 29384050
Maegele M
Transfusion 2013 Jan;53 Suppl 1:28S-37S. doi: 10.1111/trf.12033. PMID: 23301970

Recent clinical studies

Etiology

Ahmad F, Kannan M, Ansari AW
Cytokine Growth Factor Rev 2022 Feb;63:58-68. Epub 2021 Oct 24 doi: 10.1016/j.cytogfr.2021.10.007. PMID: 34750061Free PMC Article
Bouchla A, Thomopoulos TP, Papageorgiou SG, Apostolopoulou C, Loucari C, Mpazani E, Pappa V
Epigenomics 2021 Jul;13(14):1129-1143. Epub 2021 Jul 22 doi: 10.2217/epi-2021-0124. PMID: 34291653
Jaime-Pérez JC, Ramos-Dávila EM, Meléndez-Flores JD, Gómez-De León A, Gómez-Almaguer D
Blood Rev 2021 Sep;49:100827. Epub 2021 Mar 18 doi: 10.1016/j.blre.2021.100827. PMID: 33771403
Giglio RV, Patti AM, Cicero AFG, Lippi G, Rizzo M, Toth PP, Banach M
Curr Pharm Des 2018;24(2):239-258. doi: 10.2174/1381612824666180130112652. PMID: 29384050
Aruch D, Mascarenhas J
Curr Opin Hematol 2016 Mar;23(2):150-60. doi: 10.1097/MOH.0000000000000216. PMID: 26717193

Diagnosis

Bouchla A, Thomopoulos TP, Papageorgiou SG, Apostolopoulou C, Loucari C, Mpazani E, Pappa V
Epigenomics 2021 Jul;13(14):1129-1143. Epub 2021 Jul 22 doi: 10.2217/epi-2021-0124. PMID: 34291653
Jaime-Pérez JC, Ramos-Dávila EM, Meléndez-Flores JD, Gómez-De León A, Gómez-Almaguer D
Blood Rev 2021 Sep;49:100827. Epub 2021 Mar 18 doi: 10.1016/j.blre.2021.100827. PMID: 33771403
Aruch D, Mascarenhas J
Curr Opin Hematol 2016 Mar;23(2):150-60. doi: 10.1097/MOH.0000000000000216. PMID: 26717193
Maegele M
Transfusion 2013 Jan;53 Suppl 1:28S-37S. doi: 10.1111/trf.12033. PMID: 23301970
Ewenstein BM
Annu Rev Med 1997;48:525-42. doi: 10.1146/annurev.med.48.1.525. PMID: 9046981

Therapy

Bouchla A, Thomopoulos TP, Papageorgiou SG, Apostolopoulou C, Loucari C, Mpazani E, Pappa V
Epigenomics 2021 Jul;13(14):1129-1143. Epub 2021 Jul 22 doi: 10.2217/epi-2021-0124. PMID: 34291653
Giglio RV, Patti AM, Cicero AFG, Lippi G, Rizzo M, Toth PP, Banach M
Curr Pharm Des 2018;24(2):239-258. doi: 10.2174/1381612824666180130112652. PMID: 29384050
Choi S, Brull R
Anesth Analg 2009 Aug;109(2):648-60. doi: 10.1213/ane.0b013e3181ac13d1. PMID: 19608843
Davenport RA, Brohi K
Curr Opin Anaesthesiol 2009 Apr;22(2):261-6. doi: 10.1097/ACO.0b013e328325a6d9. PMID: 19390252
Ewenstein BM
Annu Rev Med 1997;48:525-42. doi: 10.1146/annurev.med.48.1.525. PMID: 9046981

Prognosis

Bouchla A, Thomopoulos TP, Papageorgiou SG, Apostolopoulou C, Loucari C, Mpazani E, Pappa V
Epigenomics 2021 Jul;13(14):1129-1143. Epub 2021 Jul 22 doi: 10.2217/epi-2021-0124. PMID: 34291653
Jaime-Pérez JC, Ramos-Dávila EM, Meléndez-Flores JD, Gómez-De León A, Gómez-Almaguer D
Blood Rev 2021 Sep;49:100827. Epub 2021 Mar 18 doi: 10.1016/j.blre.2021.100827. PMID: 33771403
Mezzano D, Quiroga T
J Thromb Haemost 2019 Feb;17(2):257-270. Epub 2019 Jan 21 doi: 10.1111/jth.14363. PMID: 30562407
Maegele M
Transfusion 2013 Jan;53 Suppl 1:28S-37S. doi: 10.1111/trf.12033. PMID: 23301970
Tefferi A, Pardanani A
Curr Opin Hematol 2004 Jan;11(1):58-64. doi: 10.1097/00062752-200401000-00009. PMID: 14676628

Clinical prediction guides

Ahmad F, Kannan M, Ansari AW
Cytokine Growth Factor Rev 2022 Feb;63:58-68. Epub 2021 Oct 24 doi: 10.1016/j.cytogfr.2021.10.007. PMID: 34750061Free PMC Article
Bouchla A, Thomopoulos TP, Papageorgiou SG, Apostolopoulou C, Loucari C, Mpazani E, Pappa V
Epigenomics 2021 Jul;13(14):1129-1143. Epub 2021 Jul 22 doi: 10.2217/epi-2021-0124. PMID: 34291653
Jaime-Pérez JC, Ramos-Dávila EM, Meléndez-Flores JD, Gómez-De León A, Gómez-Almaguer D
Blood Rev 2021 Sep;49:100827. Epub 2021 Mar 18 doi: 10.1016/j.blre.2021.100827. PMID: 33771403
Mezzano D, Quiroga T
J Thromb Haemost 2019 Feb;17(2):257-270. Epub 2019 Jan 21 doi: 10.1111/jth.14363. PMID: 30562407
Davenport RA, Brohi K
Curr Opin Anaesthesiol 2009 Apr;22(2):261-6. doi: 10.1097/ACO.0b013e328325a6d9. PMID: 19390252

Recent systematic reviews

Xu J, Tian D
Curr Med Res Opin 2014 Jan;30(1):67-74. Epub 2013 Oct 4 doi: 10.1185/03007995.2013.844116. PMID: 24028709

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