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Increased RIPA

MedGen UID:
896447
•Concept ID:
C4280706
•
Finding
HPO: HP:0040241

Definition

Increased platelet agglutination in response to low-dose ristocetin [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased RIPA

Professional guidelines

PubMed

Von Willebrand disease: pathogenesis and management.
Rodeghiero F
Thromb Res 2013 Jan;131 Suppl 1:S47-50. doi: 10.1016/S0049-3848(13)70021-5. PMID: 23452742
Intravenous DDAVP and factor VIII-von Willebrand factor concentrate for the treatment and prophylaxis of bleedings in patients With von Willebrand disease type 1, 2 and 3.
Michiels JJ, van Vliet HH, Berneman Z, Gadisseur A, van der Planken M, Schroyens W, van der Velden A, Budde U
Clin Appl Thromb Hemost 2007 Jan;13(1):14-34. doi: 10.1177/1076029606296399. PMID: 17164493
Characterization, classification, and treatment of von Willebrand diseases: a critical appraisal of the literature and personal experiences.
Michiels JJ, Gadisseur A, Budde U, Berneman Z, van der Planken M, Schroyens W, van de Velde A, van Vliet H
Semin Thromb Hemost 2005 Nov;31(5):577-601. doi: 10.1055/s-2005-922230. PMID: 16276467

Recent clinical studies

Etiology

Laboratory diagnosis and molecular classification of von Willebrand disease.
Gadisseur A, Hermans C, Berneman Z, Schroyens W, Deckmyn H, Michiels JJ
Acta Haematol 2009;121(2-3):71-84. Epub 2009 Jun 8 doi: 10.1159/000214846. PMID: 19506352
Characterization, classification, and treatment of von Willebrand diseases: a critical appraisal of the literature and personal experiences.
Michiels JJ, Gadisseur A, Budde U, Berneman Z, van der Planken M, Schroyens W, van de Velde A, van Vliet H
Semin Thromb Hemost 2005 Nov;31(5):577-601. doi: 10.1055/s-2005-922230. PMID: 16276467

Diagnosis

A new case of platelet-type von Willebrand disease supports the recent findings of gain-of-function GP1BA variants outside the C-terminal disulphide loop enhances affinity for von Willebrand factor.
Monteiro C, Gonçalves A, Pereira M, Lau C, Morais S, Santos R
Br J Haematol 2023 Nov;203(4):673-677. Epub 2023 Aug 17 doi: 10.1111/bjh.19025. PMID: 37592722
Von Willebrand disease: pathogenesis and management.
Rodeghiero F
Thromb Res 2013 Jan;131 Suppl 1:S47-50. doi: 10.1016/S0049-3848(13)70021-5. PMID: 23452742
Laboratory diagnosis and molecular classification of von Willebrand disease.
Gadisseur A, Hermans C, Berneman Z, Schroyens W, Deckmyn H, Michiels JJ
Acta Haematol 2009;121(2-3):71-84. Epub 2009 Jun 8 doi: 10.1159/000214846. PMID: 19506352

Therapy

Von Willebrand disease: pathogenesis and management.
Rodeghiero F
Thromb Res 2013 Jan;131 Suppl 1:S47-50. doi: 10.1016/S0049-3848(13)70021-5. PMID: 23452742
Characterization, classification, and treatment of von Willebrand diseases: a critical appraisal of the literature and personal experiences.
Michiels JJ, Gadisseur A, Budde U, Berneman Z, van der Planken M, Schroyens W, van de Velde A, van Vliet H
Semin Thromb Hemost 2005 Nov;31(5):577-601. doi: 10.1055/s-2005-922230. PMID: 16276467
A probable double heterozygous type II von Willebrand's disease with increased ristocetin induced platelet aggregation.
Kinoshita S, Yoshioka K, Kasahara M, Takamiya O
Am J Hematol 1992 Jul;40(3):192-8. doi: 10.1002/ajh.2830400307. PMID: 1609773

Prognosis

A new case of platelet-type von Willebrand disease supports the recent findings of gain-of-function GP1BA variants outside the C-terminal disulphide loop enhances affinity for von Willebrand factor.
Monteiro C, Gonçalves A, Pereira M, Lau C, Morais S, Santos R
Br J Haematol 2023 Nov;203(4):673-677. Epub 2023 Aug 17 doi: 10.1111/bjh.19025. PMID: 37592722

Clinical prediction guides

A new case of platelet-type von Willebrand disease supports the recent findings of gain-of-function GP1BA variants outside the C-terminal disulphide loop enhances affinity for von Willebrand factor.
Monteiro C, Gonçalves A, Pereira M, Lau C, Morais S, Santos R
Br J Haematol 2023 Nov;203(4):673-677. Epub 2023 Aug 17 doi: 10.1111/bjh.19025. PMID: 37592722
Von Willebrand disease: pathogenesis and management.
Rodeghiero F
Thromb Res 2013 Jan;131 Suppl 1:S47-50. doi: 10.1016/S0049-3848(13)70021-5. PMID: 23452742
A new von Willebrand variant (type I, New York): increased ristocetin-induced platelet aggregation and plasma von Willebrand factor containing the full range of multimers.
Weiss HJ, Sussman II
Blood 1986 Jul;68(1):149-56. PMID: 3487353

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