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Primary release disorder of platelets

MedGen UID:
356845
Concept ID:
C1867770
Disease or Syndrome
Synonym: Bleeding disorder due to primary defects in platelet release mechanism
 
Monarch Initiative: MONDO:0008309
OMIM®: 176630

Clinical features

From HPO
Menorrhagia
MedGen UID:
44358
Concept ID:
C0025323
Pathologic Function
Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.
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.
Spontaneous, recurrent epistaxis
MedGen UID:
816045
Concept ID:
C3809715
Finding
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.

Professional guidelines

PubMed

O'Leary JG, Greenberg CS, Patton HM, Caldwell SH
Gastroenterology 2019 Jul;157(1):34-43.e1. Epub 2019 Apr 12 doi: 10.1053/j.gastro.2019.03.070. PMID: 30986390
Ay C, Pabinger I, Cohen AT
Thromb Haemost 2017 Jan 26;117(2):219-230. Epub 2016 Nov 24 doi: 10.1160/TH16-08-0615. PMID: 27882374
Duan K, Yu W, Li N
Clin Appl Thromb Hemost 2015 Oct;21(7):645-52. Epub 2013 Dec 19 doi: 10.1177/1076029613516190. PMID: 24363215

Recent clinical studies

Etiology

Karjalainen TV, Lusa V, Page MJ, O'Connor D, Massy-Westropp N, Peters SE
Cochrane Database Syst Rev 2023 Feb 27;2(2):CD010003. doi: 10.1002/14651858.CD010003.pub2. PMID: 36848651Free PMC Article
Shafeghat M, Kazemian S, Aminorroaya A, Aryan Z, Rezaei N
Int Immunopharmacol 2022 Dec;113(Pt A):109390. Epub 2022 Oct 29 doi: 10.1016/j.intimp.2022.109390. PMID: 36330918
Schuster SJ, Tam CS, Borchmann P, Worel N, McGuirk JP, Holte H, Waller EK, Jaglowski S, Bishop MR, Damon LE, Foley SR, Westin JR, Fleury I, Ho PJ, Mielke S, Teshima T, Janakiram M, Hsu JM, Izutsu K, Kersten MJ, Ghosh M, Wagner-Johnston N, Kato K, Corradini P, Martinez-Prieto M, Han X, Tiwari R, Salles G, Maziarz RT
Lancet Oncol 2021 Oct;22(10):1403-1415. Epub 2021 Sep 10 doi: 10.1016/S1470-2045(21)00375-2. PMID: 34516954
O'Leary JG, Greenberg CS, Patton HM, Caldwell SH
Gastroenterology 2019 Jul;157(1):34-43.e1. Epub 2019 Apr 12 doi: 10.1053/j.gastro.2019.03.070. PMID: 30986390
Ay C, Pabinger I, Cohen AT
Thromb Haemost 2017 Jan 26;117(2):219-230. Epub 2016 Nov 24 doi: 10.1160/TH16-08-0615. PMID: 27882374

Diagnosis

Karjalainen TV, Lusa V, Page MJ, O'Connor D, Massy-Westropp N, Peters SE
Cochrane Database Syst Rev 2023 Feb 27;2(2):CD010003. doi: 10.1002/14651858.CD010003.pub2. PMID: 36848651Free PMC Article
Schuster SJ, Tam CS, Borchmann P, Worel N, McGuirk JP, Holte H, Waller EK, Jaglowski S, Bishop MR, Damon LE, Foley SR, Westin JR, Fleury I, Ho PJ, Mielke S, Teshima T, Janakiram M, Hsu JM, Izutsu K, Kersten MJ, Ghosh M, Wagner-Johnston N, Kato K, Corradini P, Martinez-Prieto M, Han X, Tiwari R, Salles G, Maziarz RT
Lancet Oncol 2021 Oct;22(10):1403-1415. Epub 2021 Sep 10 doi: 10.1016/S1470-2045(21)00375-2. PMID: 34516954
Ay C, Pabinger I, Cohen AT
Thromb Haemost 2017 Jan 26;117(2):219-230. Epub 2016 Nov 24 doi: 10.1160/TH16-08-0615. PMID: 27882374
Danese E, Montagnana M, Lippi G
Thromb Res 2014 Jul;134(1):17-22. Epub 2014 Apr 12 doi: 10.1016/j.thromres.2014.03.055. PMID: 24767953
Nurden AT, Freson K, Seligsohn U
Haemophilia 2012 Jul;18 Suppl 4:154-60. doi: 10.1111/j.1365-2516.2012.02856.x. PMID: 22726100

Therapy

Karjalainen TV, Lusa V, Page MJ, O'Connor D, Massy-Westropp N, Peters SE
Cochrane Database Syst Rev 2023 Feb 27;2(2):CD010003. doi: 10.1002/14651858.CD010003.pub2. PMID: 36848651Free PMC Article
Schuster SJ, Tam CS, Borchmann P, Worel N, McGuirk JP, Holte H, Waller EK, Jaglowski S, Bishop MR, Damon LE, Foley SR, Westin JR, Fleury I, Ho PJ, Mielke S, Teshima T, Janakiram M, Hsu JM, Izutsu K, Kersten MJ, Ghosh M, Wagner-Johnston N, Kato K, Corradini P, Martinez-Prieto M, Han X, Tiwari R, Salles G, Maziarz RT
Lancet Oncol 2021 Oct;22(10):1403-1415. Epub 2021 Sep 10 doi: 10.1016/S1470-2045(21)00375-2. PMID: 34516954
Han X, Li H, Zhou D, Chen Z, Gu Z
Acc Chem Res 2020 Nov 17;53(11):2521-2533. Epub 2020 Oct 19 doi: 10.1021/acs.accounts.0c00339. PMID: 33073988Free PMC Article
O'Leary JG, Greenberg CS, Patton HM, Caldwell SH
Gastroenterology 2019 Jul;157(1):34-43.e1. Epub 2019 Apr 12 doi: 10.1053/j.gastro.2019.03.070. PMID: 30986390
Ay C, Pabinger I, Cohen AT
Thromb Haemost 2017 Jan 26;117(2):219-230. Epub 2016 Nov 24 doi: 10.1160/TH16-08-0615. PMID: 27882374

Prognosis

Zellner M
Platelets 2023 Dec;34(1):2220046. doi: 10.1080/09537104.2023.2220046. PMID: 37272536
Wienkamp AK, Erpenbeck L, Rossaint J
Front Immunol 2022;13:953129. Epub 2022 Aug 1 doi: 10.3389/fimmu.2022.953129. PMID: 35979369Free PMC Article
Ay C, Pabinger I, Cohen AT
Thromb Haemost 2017 Jan 26;117(2):219-230. Epub 2016 Nov 24 doi: 10.1160/TH16-08-0615. PMID: 27882374
Cahill PA, Redmond EM
Atherosclerosis 2016 May;248:97-109. Epub 2016 Mar 9 doi: 10.1016/j.atherosclerosis.2016.03.007. PMID: 26994427Free PMC Article
Duan K, Yu W, Li N
Clin Appl Thromb Hemost 2015 Oct;21(7):645-52. Epub 2013 Dec 19 doi: 10.1177/1076029613516190. PMID: 24363215

Clinical prediction guides

Shafeghat M, Kazemian S, Aminorroaya A, Aryan Z, Rezaei N
Int Immunopharmacol 2022 Dec;113(Pt A):109390. Epub 2022 Oct 29 doi: 10.1016/j.intimp.2022.109390. PMID: 36330918
O'Leary JG, Greenberg CS, Patton HM, Caldwell SH
Gastroenterology 2019 Jul;157(1):34-43.e1. Epub 2019 Apr 12 doi: 10.1053/j.gastro.2019.03.070. PMID: 30986390
Rosińska J, Łukasik M, Kozubski W
Cardiovasc Drugs Ther 2017 Dec;31(5-6):627-644. doi: 10.1007/s10557-017-6757-7. PMID: 29164426Free PMC Article
Ay C, Pabinger I, Cohen AT
Thromb Haemost 2017 Jan 26;117(2):219-230. Epub 2016 Nov 24 doi: 10.1160/TH16-08-0615. PMID: 27882374
Cahill PA, Redmond EM
Atherosclerosis 2016 May;248:97-109. Epub 2016 Mar 9 doi: 10.1016/j.atherosclerosis.2016.03.007. PMID: 26994427Free PMC Article

Recent systematic reviews

Karjalainen TV, Lusa V, Page MJ, O'Connor D, Massy-Westropp N, Peters SE
Cochrane Database Syst Rev 2023 Feb 27;2(2):CD010003. doi: 10.1002/14651858.CD010003.pub2. PMID: 36848651Free PMC Article
Anunciación-Llunell A, Miró-Mur F, Esteve-Valverde E, Marques-Soares J, Pardos-Gea J, Alijotas-Reig J
Autoimmun Rev 2021 Dec;20(12):102982. Epub 2021 Oct 27 doi: 10.1016/j.autrev.2021.102982. PMID: 34718168
Greenhalgh J, Bagust A, Boland A, Martin Saborido C, Oyee J, Blundell M, Dundar Y, Dickson R, Proudlove C, Fisher M
Health Technol Assess 2011 Sep;15(31):1-178. doi: 10.3310/hta15310. PMID: 21888837Free PMC Article
Lacerda MV, Mourão MP, Coelho HC, Santos JB
Mem Inst Oswaldo Cruz 2011 Aug;106 Suppl 1:52-63. doi: 10.1590/s0074-02762011000900007. PMID: 21881757
Squizzato A, Romualdi E, Dentali F, Ageno W
Cochrane Database Syst Rev 2011 Aug 10;(8):CD007551. doi: 10.1002/14651858.CD007551.pub2. PMID: 21833959

Supplemental Content

Table of contents

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