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Hemorrhagic disorder due to a qualitative platelet defect

MedGen UID:
1842730
•Concept ID:
C5679758
•
Disease or Syndrome
Synonyms: Rare bleeding disorder due to a constitutional thrombopathy; Rare bleeding disorder due to a qualitative platelet defect; Rare coagulopathy due to a constitutional thrombopathy; Rare coagulopathy due to a qualitative platelet defect; Rare hemorrhagic disorder due to a constitutional thrombopathy; Rare hemorrhagic disorder due to a qualitative platelet defect
 
Orphanet: ORPHA275736

Professional guidelines

PubMed

Von Willebrand Disease: Current Status of Diagnosis and Management.
Weyand AC, Flood VH
Hematol Oncol Clin North Am 2021 Dec;35(6):1085-1101. Epub 2021 Aug 13 doi: 10.1016/j.hoc.2021.07.004. PMID: 34400042Free PMC Article
Principles of care for the diagnosis and treatment of von Willebrand disease.
Castaman G, Goodeve A, Eikenboom J; European Group on von Willebrand Disease
Haematologica 2013 May;98(5):667-74. doi: 10.3324/haematol.2012.077263. PMID: 23633542Free PMC Article
Advances in the diagnosis and management of type 1 von Willebrand disease.
Castaman G, Rodeghiero F
Expert Rev Hematol 2011 Feb;4(1):95-106. doi: 10.1586/ehm.11.1. PMID: 21322782

Recent clinical studies

Etiology

Screening platelet function in blood donors.
Pedini P, Baudey JB, Pouymayou K, Falaise C, Ibrahim-Kosta M, Vélier M, Demerle C, Graiet H, Dragutini C, Dombey AM, Chiaroni J, Alessi MC, Picard C
Transfusion 2022 Aug;62(8):1643-1651. Epub 2022 Jun 24 doi: 10.1111/trf.16990. PMID: 35748562Free PMC Article
Advances in the diagnosis and management of von Willebrand disease.
Franchini M
Hematology 2006 Aug;11(4):219-25. doi: 10.1080/10245330600841311. PMID: 17178659
Inherited thrombophilia.
Franchini M, Veneri D, Salvagno GL, Manzato F, Lippi G
Crit Rev Clin Lab Sci 2006;43(3):249-90. doi: 10.1080/10408360600552678. PMID: 16574555
Coagulation disorders in liver disease.
Amitrano L, Guardascione MA, Brancaccio V, Balzano A
Semin Liver Dis 2002 Feb;22(1):83-96. doi: 10.1055/s-2002-23205. PMID: 11928081
Inherited bleeding disorders.
Blanchette VS, Sparling C, Turner C
Baillieres Clin Haematol 1991 Apr;4(2):291-332. doi: 10.1016/s0950-3536(05)80162-3. PMID: 1912663

Diagnosis

Von Willebrand Disease: Current Status of Diagnosis and Management.
Weyand AC, Flood VH
Hematol Oncol Clin North Am 2021 Dec;35(6):1085-1101. Epub 2021 Aug 13 doi: 10.1016/j.hoc.2021.07.004. PMID: 34400042Free PMC Article
Von Willebrand disease type 2N: An update.
Seidizadeh O, Peyvandi F, Mannucci PM
J Thromb Haemost 2021 Apr;19(4):909-916. Epub 2021 Mar 26 doi: 10.1111/jth.15247. PMID: 33497541
Glanzmann thrombasthenia: genetic basis and clinical correlates.
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
Glanzmann thrombasthenia.
Nurden AT
Orphanet J Rare Dis 2006 Apr 6;1:10. doi: 10.1186/1750-1172-1-10. PMID: 16722529Free PMC Article
Coagulation disorders in liver disease.
Amitrano L, Guardascione MA, Brancaccio V, Balzano A
Semin Liver Dis 2002 Feb;22(1):83-96. doi: 10.1055/s-2002-23205. PMID: 11928081

Therapy

Use of allogeneic stem cell transplantation for moderate-severe Glanzmann thrombasthenia.
Walz A, Lenzen A, Curtis B, Canner J, Schneiderman J
Platelets 2015;26(7):702-4. Epub 2014 Dec 30 doi: 10.3109/09537104.2014.987225. PMID: 25548835
Advances in the diagnosis and management of von Willebrand disease.
Franchini M
Hematology 2006 Aug;11(4):219-25. doi: 10.1080/10245330600841311. PMID: 17178659
Glanzmann thrombasthenia.
Nurden AT
Orphanet J Rare Dis 2006 Apr 6;1:10. doi: 10.1186/1750-1172-1-10. PMID: 16722529Free PMC Article
Inherited bleeding disorders.
Blanchette VS, Sparling C, Turner C
Baillieres Clin Haematol 1991 Apr;4(2):291-332. doi: 10.1016/s0950-3536(05)80162-3. PMID: 1912663
von Willebrand disease.
Zimmerman TS, Ruggeri ZM
Hum Pathol 1987 Feb;18(2):140-52. doi: 10.1016/s0046-8177(87)80332-5. PMID: 3100416

Prognosis

Thrombocytosis and Thrombosis: Is There Really a Correlation?
Galvez C, Stein BL
Curr Hematol Malig Rep 2020 Aug;15(4):261-267. doi: 10.1007/s11899-020-00588-z. PMID: 32399765
Developments in the diagnostic procedures for von Willebrand disease.
De Jong A, Eikenboom J
J Thromb Haemost 2016 Mar;14(3):449-60. Epub 2016 Feb 12 doi: 10.1111/jth.13243. PMID: 26714181
The pathophysiology of von Willebrand disease: therapeutic implications.
Schneppenheim R
Thromb Res 2011;128 Suppl 1:S3-7. doi: 10.1016/S0049-3848(12)70002-6. PMID: 22221847
Advances in the diagnosis and management of type 1 von Willebrand disease.
Castaman G, Rodeghiero F
Expert Rev Hematol 2011 Feb;4(1):95-106. doi: 10.1586/ehm.11.1. PMID: 21322782
Glanzmann thrombasthenia.
Nurden AT
Orphanet J Rare Dis 2006 Apr 6;1:10. doi: 10.1186/1750-1172-1-10. PMID: 16722529Free PMC Article

Clinical prediction guides

Screening platelet function in blood donors.
Pedini P, Baudey JB, Pouymayou K, Falaise C, Ibrahim-Kosta M, Vélier M, Demerle C, Graiet H, Dragutini C, Dombey AM, Chiaroni J, Alessi MC, Picard C
Transfusion 2022 Aug;62(8):1643-1651. Epub 2022 Jun 24 doi: 10.1111/trf.16990. PMID: 35748562Free PMC Article
Developments in the diagnostic procedures for von Willebrand disease.
De Jong A, Eikenboom J
J Thromb Haemost 2016 Mar;14(3):449-60. Epub 2016 Feb 12 doi: 10.1111/jth.13243. PMID: 26714181
The pathophysiology of von Willebrand disease: therapeutic implications.
Schneppenheim R
Thromb Res 2011;128 Suppl 1:S3-7. doi: 10.1016/S0049-3848(12)70002-6. PMID: 22221847
Patients with liver cirrhosis suffer from primary haemostatic defects? Fact or fiction?
Violi F, Basili S, Raparelli V, Chowdary P, Gatt A, Burroughs AK
J Hepatol 2011 Dec;55(6):1415-27. Epub 2011 Jun 28 doi: 10.1016/j.jhep.2011.06.008. PMID: 21718668
Advances in the diagnosis and management of type 1 von Willebrand disease.
Castaman G, Rodeghiero F
Expert Rev Hematol 2011 Feb;4(1):95-106. doi: 10.1586/ehm.11.1. PMID: 21322782

Recent systematic reviews

Bernard Soulier syndrome in pregnancy: a systematic review.
Peitsidis P, Datta T, Pafilis I, Otomewo O, Tuddenham EG, Kadir RA
Haemophilia 2010 Jul 1;16(4):584-91. Epub 2010 Jan 12 doi: 10.1111/j.1365-2516.2009.02137.x. PMID: 20070385

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