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Qualitative platelet disorder

MedGen UID:
749488
•Concept ID:
C2585231
•
Disease or Syndrome
Synonyms: Qualitative Platelet Defect; Qualitative Platelet Disorder
SNOMED CT: Qualitative platelet disorder (267532001)

Definition

A group of conditions characterized by impaired platelet function, which may be suggested by clinical evidence of bleeding in the setting of a normal platelet count. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVQualitative platelet disorder

Professional guidelines

PubMed

The evidence for the use of recombinant human activated factor VII in the treatment of bleeding patients with quantitative and qualitative platelet disorders.
Poon MC
Transfus Med Rev 2007 Jul;21(3):223-36. doi: 10.1016/j.tmrv.2007.03.003. PMID: 17572261

Recent clinical studies

Etiology

Sticky Platelet Syndrome: 35 Years of Growing Evidence.
Kubisz P, Holly P, Stasko J
Semin Thromb Hemost 2019 Feb;45(1):61-68. Epub 2019 Jan 10 doi: 10.1055/s-0038-1676581. PMID: 30630207
Sustained engraftment and resolution of bleeding phenotype after unrelated cord blood hematopoietic stem cell transplantation for severe glanzmann thrombasthenia.
Miller W, Dunn A, Chiang KY
J Pediatr Hematol Oncol 2009 Jun;31(6):437-9. doi: 10.1097/MPH.0b013e31819b7228. PMID: 19648793
Use of recombinant activated factor VII to control bleeding in a young child with qualitative platelet disorder: a case report.
Inagaki M, Mori T, Tsunematsu Y, Ambo H, Kawai Y
Blood Coagul Fibrinolysis 2006 Jun;17(4):317-22. doi: 10.1097/01.mbc.0000224853.50248.6f. PMID: 16651876
Dental considerations for a Glanzmann's thrombasthenia patient: case report.
Bisch FC, Bowen KJ, Hanson BS, Kudryk VL, Billman MA
J Periodontol 1996 May;67(5):536-40. doi: 10.1902/jop.1996.67.5.536. PMID: 8724714

Diagnosis

The May-Hegglin anomaly: a rare cause of a common complaint.
Reddy P, Kollipara R, Shammo JM, Loew J
BMJ Case Rep 2021 Mar 1;14(3) doi: 10.1136/bcr-2020-235432. PMID: 33649034Free PMC Article
Characterizing female patients with haemophilia A: Administrative claims analysis and medical chart review.
Farej R, Batt K, Afonja O, Martin C, Aubert R, Carlyle M, White J, Sidonio RF Jr
Haemophilia 2020 May;26(3):520-528. Epub 2020 Apr 8 doi: 10.1111/hae.13981. PMID: 32268006
Sticky Platelet Syndrome: 35 Years of Growing Evidence.
Kubisz P, Holly P, Stasko J
Semin Thromb Hemost 2019 Feb;45(1):61-68. Epub 2019 Jan 10 doi: 10.1055/s-0038-1676581. PMID: 30630207
Disorders of hemostatic function in patients with systemic lupus erythematosus.
Lee SL, Miotti AB
Semin Arthritis Rheum 1975 Feb;4(3):241-52. doi: 10.1016/0049-0172(75)90011-6. PMID: 1091975
Gray platelet syndrome. A variety of qualitative platelet disorder.
Raccuglia G
Am J Med 1971 Dec;51(6):818-28. doi: 10.1016/0002-9343(71)90311-1. PMID: 5129551

Therapy

Sticky platelet syndrome: history and future perspectives.
Kubisz P, Ruiz-Argüelles GJ, Stasko J, Holly P, Ruiz-Delgado GJ
Semin Thromb Hemost 2014 Jul;40(5):526-34. Epub 2014 Jun 9 doi: 10.1055/s-0034-1381235. PMID: 24911675
Intensive menstrual bleeding successfully treated with recombinant factor VIIa in Glanzmann thrombasthenia.
Balci YI, Karabulut A, Kabukcu S, Sari I, Keskin A
Clin Appl Thromb Hemost 2011 Aug;17(4):320-2. Epub 2010 May 11 doi: 10.1177/1076029610364518. PMID: 20460355
The evidence for the use of recombinant human activated factor VII in the treatment of bleeding patients with quantitative and qualitative platelet disorders.
Poon MC
Transfus Med Rev 2007 Jul;21(3):223-36. doi: 10.1016/j.tmrv.2007.03.003. PMID: 17572261
Use of recombinant activated factor VII to control bleeding in a young child with qualitative platelet disorder: a case report.
Inagaki M, Mori T, Tsunematsu Y, Ambo H, Kawai Y
Blood Coagul Fibrinolysis 2006 Jun;17(4):317-22. doi: 10.1097/01.mbc.0000224853.50248.6f. PMID: 16651876
Gray platelet syndrome. A variety of qualitative platelet disorder.
Raccuglia G
Am J Med 1971 Dec;51(6):818-28. doi: 10.1016/0002-9343(71)90311-1. PMID: 5129551

Prognosis

Use of recombinant activated factor VII to control bleeding in a young child with qualitative platelet disorder: a case report.
Inagaki M, Mori T, Tsunematsu Y, Ambo H, Kawai Y
Blood Coagul Fibrinolysis 2006 Jun;17(4):317-22. doi: 10.1097/01.mbc.0000224853.50248.6f. PMID: 16651876
Anesthetic implications of the grey platelet syndrome.
Laskey AL, Tobias JD
Can J Anaesth 2000 Dec;47(12):1224-9. doi: 10.1007/BF03019873. PMID: 11132746

Clinical prediction guides

Characterizing female patients with haemophilia A: Administrative claims analysis and medical chart review.
Farej R, Batt K, Afonja O, Martin C, Aubert R, Carlyle M, White J, Sidonio RF Jr
Haemophilia 2020 May;26(3):520-528. Epub 2020 Apr 8 doi: 10.1111/hae.13981. PMID: 32268006
The evidence for the use of recombinant human activated factor VII in the treatment of bleeding patients with quantitative and qualitative platelet disorders.
Poon MC
Transfus Med Rev 2007 Jul;21(3):223-36. doi: 10.1016/j.tmrv.2007.03.003. PMID: 17572261
Chronic isolated macrothrombocytopenia with autosomal dominant transmission: a morphological and qualitative platelet disorder.
Fabris F, Cordiano I, Salvan F, Ramon R, Valente M, Luzzatto G, Girolami A
Eur J Haematol 1997 Jan;58(1):40-5. doi: 10.1111/j.1600-0609.1997.tb01408.x. PMID: 9020372
Disorders of hemostatic function in patients with systemic lupus erythematosus.
Lee SL, Miotti AB
Semin Arthritis Rheum 1975 Feb;4(3):241-52. doi: 10.1016/0049-0172(75)90011-6. PMID: 1091975

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