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Abnormal platelet aggregation

MedGen UID:
154224
Concept ID:
C0541767
Finding
HPO: HP:0030402

Definition

An abnormality 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. [from HPO]

Conditions with this feature

Hermansky-Pudlak syndrome 9
MedGen UID:
481656
Concept ID:
C3280026
Disease or Syndrome
Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.

Professional guidelines

PubMed

Luo BY, Jiang JL, Fang YF, Yang F, Yin MD, Zhang BC, Zhao RR, Shao JW
Pharmacol Res 2020 Sep;159:105031. Epub 2020 Jun 17 doi: 10.1016/j.phrs.2020.105031. PMID: 32562816
Ruiz-Argüelles GJ, Marín-Lopez A, Lobato-Mendizábal E, Ruiz-Argüelles A, Nichols WL, Katzman JA
Br J Haematol 1986 Jan;62(1):55-63. doi: 10.1111/j.1365-2141.1986.tb02900.x. PMID: 3942696

Recent clinical studies

Etiology

Su X, Zhao W
Clin Chim Acta 2022 Nov 1;536:94-97. Epub 2022 Sep 19 doi: 10.1016/j.cca.2022.09.016. PMID: 36169058
Luo BY, Jiang JL, Fang YF, Yang F, Yin MD, Zhang BC, Zhao RR, Shao JW
Pharmacol Res 2020 Sep;159:105031. Epub 2020 Jun 17 doi: 10.1016/j.phrs.2020.105031. PMID: 32562816
Khatua TN, Adela R, Banerjee SK
Can J Physiol Pharmacol 2013 Jun;91(6):448-58. Epub 2013 Mar 6 doi: 10.1139/cjpp-2012-0315. PMID: 23746107
Ginter E, Simko V
Bratisl Lek Listy 2010;111(8):452-6. PMID: 21033626
Dorsch CA, Meyerhoff J
Arthritis Rheum 1982 Aug;25(8):966-73. doi: 10.1002/art.1780250809. PMID: 7115455

Diagnosis

Botero JP, Lee K, Branchford BR, Bray PF, Freson K, Lambert MP, Luo M, Mohan S, Ross JE, Bergmeier W, Di Paola J; ClinGen Platelet Disorder Variant Curation Expert Panel
Haematologica 2020 Apr;105(4):888-894. Epub 2020 Mar 5 doi: 10.3324/haematol.2018.214239. PMID: 32139434Free PMC Article
O'Brien SH
Am J Hematol 2012 May;87 Suppl 1:S40-4. Epub 2012 Mar 28 doi: 10.1002/ajh.23157. PMID: 22460356
Dror Y, Zipursky A, Blanchette VS
J Pediatr Hematol Oncol 1999 Sep-Oct;21(5):356-63. doi: 10.1097/00043426-199909000-00005. PMID: 10524447
Mughal TI
Stem Cells 1995 Jul;13(4):355-9. doi: 10.1002/stem.5530130406. PMID: 7549894
Eyster ME, Saletan SL, Rabellino EM, Karanas A, McDonald TP, Locke LA, Luderer JR
Am J Med 1986 Mar;80(3):497-502. doi: 10.1016/0002-9343(86)90727-8. PMID: 3953624

Therapy

Luo BY, Jiang JL, Fang YF, Yang F, Yin MD, Zhang BC, Zhao RR, Shao JW
Pharmacol Res 2020 Sep;159:105031. Epub 2020 Jun 17 doi: 10.1016/j.phrs.2020.105031. PMID: 32562816
Khatua TN, Adela R, Banerjee SK
Can J Physiol Pharmacol 2013 Jun;91(6):448-58. Epub 2013 Mar 6 doi: 10.1139/cjpp-2012-0315. PMID: 23746107
Ginter E, Simko V
Bratisl Lek Listy 2010;111(8):452-6. PMID: 21033626
Mughal TI
Stem Cells 1995 Jul;13(4):355-9. doi: 10.1002/stem.5530130406. PMID: 7549894
Frishman WH
Am Heart J 1988 Nov;116(5 Pt 2):1393-400. doi: 10.1016/0002-8703(88)90129-9. PMID: 2903649

Prognosis

Badin MS, Iyer JK, Chong M, Graf L, Rivard GE, Waye JS, Paterson AD, Pare G, Hayward CPM
Haemophilia 2017 May;23(3):e204-e213. Epub 2017 Feb 8 doi: 10.1111/hae.13169. PMID: 28181366
Dror Y, Zipursky A, Blanchette VS
J Pediatr Hematol Oncol 1999 Sep-Oct;21(5):356-63. doi: 10.1097/00043426-199909000-00005. PMID: 10524447
Sassetti B, Lajmanovich A, Vázquez A, Vizcarguénaga MI, Berthier R, Aversa L, Bustelo P, Kordich L
J Pediatr Hematol Oncol 1996 Feb;18(1):23-8. doi: 10.1097/00043426-199602000-00005. PMID: 8556365
Visudhiphan S, Ketsa-Ard K, Piankijagum A, Tumliang S
Biomed Pharmacother 1985;39(6):264-71. PMID: 4084660
Remuzzi G, Benigni A, Dodesini P, Schieppati A, Livio M, De Gaetano G, Day SS, Smith WL, Pinca E, Patrignani P, Patrono C
J Clin Invest 1983 Mar;71(3):762-8. doi: 10.1172/jci110824. PMID: 6298281Free PMC Article

Clinical prediction guides

Badin MS, Iyer JK, Chong M, Graf L, Rivard GE, Waye JS, Paterson AD, Pare G, Hayward CPM
Haemophilia 2017 May;23(3):e204-e213. Epub 2017 Feb 8 doi: 10.1111/hae.13169. PMID: 28181366
O'Brien SH
Am J Hematol 2012 May;87 Suppl 1:S40-4. Epub 2012 Mar 28 doi: 10.1002/ajh.23157. PMID: 22460356
Dror Y, Zipursky A, Blanchette VS
J Pediatr Hematol Oncol 1999 Sep-Oct;21(5):356-63. doi: 10.1097/00043426-199909000-00005. PMID: 10524447
Sassetti B, Lajmanovich A, Vázquez A, Vizcarguénaga MI, Berthier R, Aversa L, Bustelo P, Kordich L
J Pediatr Hematol Oncol 1996 Feb;18(1):23-8. doi: 10.1097/00043426-199602000-00005. PMID: 8556365
Eyster ME, Saletan SL, Rabellino EM, Karanas A, McDonald TP, Locke LA, Luderer JR
Am J Med 1986 Mar;80(3):497-502. doi: 10.1016/0002-9343(86)90727-8. PMID: 3953624

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