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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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Spontaneous, recurrent epistaxis
MedGen UID:
816045
•Concept ID:
C3809715
•
Finding
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

AGA Clinical Practice Update: Coagulation in Cirrhosis.
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
Cancer-associated venous thromboembolism: Burden, mechanisms, and management.
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
The Pathophysiology and Management of Acute Traumatic Coagulopathy.
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

Splinting for carpal tunnel syndrome.
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
Toll-like receptor 7 regulates cardiovascular diseases.
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
Long-term clinical outcomes of tisagenlecleucel in patients with relapsed or refractory aggressive B-cell lymphomas (JULIET): a multicentre, open-label, single-arm, phase 2 study.
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
AGA Clinical Practice Update: Coagulation in Cirrhosis.
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
Cancer-associated venous thromboembolism: Burden, mechanisms, and management.
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

Splinting for carpal tunnel syndrome.
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
Long-term clinical outcomes of tisagenlecleucel in patients with relapsed or refractory aggressive B-cell lymphomas (JULIET): a multicentre, open-label, single-arm, phase 2 study.
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
Cancer-associated venous thromboembolism: Burden, mechanisms, and management.
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
Platelets and migraine.
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
Inherited platelet disorders.
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

Splinting for carpal tunnel syndrome.
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
Long-term clinical outcomes of tisagenlecleucel in patients with relapsed or refractory aggressive B-cell lymphomas (JULIET): a multicentre, open-label, single-arm, phase 2 study.
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
Local and Targeted Delivery of Immune Checkpoint Blockade Therapeutics.
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
AGA Clinical Practice Update: Coagulation in Cirrhosis.
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
Cancer-associated venous thromboembolism: Burden, mechanisms, and management.
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

Platelets in the NETworks interweaving inflammation and thrombosis.
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
Cancer-associated venous thromboembolism: Burden, mechanisms, and management.
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
Vascular endothelium - Gatekeeper of vessel health.
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
The Pathophysiology and Management of Acute Traumatic Coagulopathy.
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
Myelofibrosis with myeloid metaplasia.
Barosi G
Hematol Oncol Clin North Am 2003 Oct;17(5):1211-26. doi: 10.1016/s0889-8588(03)00080-7. PMID: 14560783

Clinical prediction guides

Toll-like receptor 7 regulates cardiovascular diseases.
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
AGA Clinical Practice Update: Coagulation in Cirrhosis.
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
The Impact of Vascular Disease Treatment on Platelet-Derived Microvesicles.
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
Cancer-associated venous thromboembolism: Burden, mechanisms, and management.
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
Vascular endothelium - Gatekeeper of vessel health.
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

Splinting for carpal tunnel syndrome.
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
Proteomics and enriched biological processes in Antiphospholipid syndrome: A systematic review.
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
Efficacy and safety of prasugrel in acute coronary syndrome patients.
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
Thrombocytopenia in malaria: who cares?
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
Statins for acute ischemic stroke.
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

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