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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
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
Boccardo P, Remuzzi G, Galbusera M
Semin Thromb Hemost 2004 Oct;30(5):579-89. doi: 10.1055/s-2004-835678. PMID: 15497100

Diagnosis

Schöenfeld L, Appl B, Pagerols-Raluy L, Heuer A, Reinshagen K, Boettcher M
J Vis Exp 2023 Aug 18;(198) doi: 10.3791/65272. PMID: 37677039
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
Boccardo P, Remuzzi G, Galbusera M
Semin Thromb Hemost 2004 Oct;30(5):579-89. doi: 10.1055/s-2004-835678. PMID: 15497100

Therapy

de Vries PS, Reventun P, Brown MR, Heath AS, Huffman JE, Le NQ, Bebo A, Brody JA, Temprano-Sagrera G, Raffield LM, Ozel AB, Thibord F, Jain D, Lewis JP, Rodriguez BAT, Pankratz N, Taylor KD, Polasek O, Chen MH, Yanek LR, Carrasquilla GD, Marioni RE, Kleber ME, Trégouët DA, Yao J, Li-Gao R, Joshi PK, Trompet S, Martinez-Perez A, Ghanbari M, Howard TE, Reiner AP, Arvanitis M, Ryan KA, Bartz TM, Rudan I, Faraday N, Linneberg A, Ekunwe L, Davies G, Delgado GE, Suchon P, Guo X, Rosendaal FR, Klaric L, Noordam R, van Rooij F, Curran JE, Wheeler MM, Osburn WO, O'Connell JR, Boerwinkle E, Beswick A, Psaty BM, Kolcic I, Souto JC, Becker LC, Hansen T, Doyle MF, Harris SE, Moissl AP, Deleuze JF, Rich SS, van Hylckama Vlieg A, Campbell H, Stott DJ, Soria JM, de Maat MPM, Almasy L, Brody LC, Auer PL, Mitchell BD, Ben-Shlomo Y, Fornage M, Hayward C, Mathias RA, Kilpeläinen TO, Lange LA, Cox SR, März W, Morange PE, Rotter JI, Mook-Kanamori DO, Wilson JF, van der Harst P, Jukema JW, Ikram MA, Blangero J, Kooperberg C, Desch KC, Johnson AD, Sabater-Lleal M, Lowenstein CJ, Smith NL, Morrison AC
Blood 2024 May 2;143(18):1845-1855. doi: 10.1182/blood.2023021452. PMID: 38320121Free PMC Article
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
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

Smith KER, Peng KW, Pulido JS, Weisbrod AJ, Strand CA, Allred JB, Newsom AN, Zhang L, Packiriswamy N, Kottke T, Tonne JM, Moore M, Montane HN, Kottschade LA, McWilliams RR, Dudek AZ, Yan Y, Dimou A, Markovic SN, Federspiel MJ, Vile RG, Dronca RS, Block MS
Front Immunol 2023;14:1279387. Epub 2023 Oct 31 doi: 10.3389/fimmu.2023.1279387. PMID: 38022659Free PMC Article
Wolny M, Rozanova S, Knabbe C, Pfeiffer K, Barkovits K, Marcus K, Birschmann I
Cells 2023 Sep 1;12(17) doi: 10.3390/cells12172191. PMID: 37681923Free PMC Article
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
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

Ramste M, Ritvos M, Häyrynen S, Kiiski JI, Niemi M, Sinisalo J
Clin Transl Sci 2023 Oct;16(10):2010-2020. Epub 2023 Aug 16 doi: 10.1111/cts.13608. PMID: 37551775Free 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
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

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
Nanau RM, Delzor F, Neuman MG
Clin Biochem 2014 May;47(7-8):516-28. Epub 2014 Mar 21 doi: 10.1016/j.clinbiochem.2014.03.005. PMID: 24657510
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

    Clinical resources

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