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Impaired binding of factor VIII to VWF

MedGen UID:
906846
•Concept ID:
C4280710
•
Finding
Synonym: von Willebrand Disease Type II Normandy
 
HPO: HP:0040237

Definition

Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImpaired binding of factor VIII to VWF

Recent clinical studies

Etiology

Periprocedural management of type 2N von Willebrand disease with efanesoctocog alfa.
Ryu JH, Bauer KA, Schulman S
J Thromb Haemost 2023 Dec;21(12):3508-3510. Epub 2023 Sep 20 doi: 10.1016/j.jtha.2023.09.009. PMID: 37734716
The Lesson Learned from the New c.2547-1G > T Mutation Combined with p.R854Q: When a Type 2N Mutation Reveals a Quantitative von Willebrand Factor Defect.
Casonato A, Cozzi MR, Ferrari S, Rubin B, Gianesello L, De Marco L, Daidone V
Thromb Haemost 2022 Sep;122(9):1479-1485. Epub 2022 Feb 21 doi: 10.1055/a-1777-6881. PMID: 35189660
Patients with severe aortic valve stenosis and impaired platelet function benefit from preoperative desmopressin infusion.
Steinlechner B, Zeidler P, Base E, Birkenberg B, Ankersmit HJ, Spannagl M, Quehenberger P, Hiesmayr M, Jilma B
Ann Thorac Surg 2011 May;91(5):1420-6. Epub 2011 Mar 24 doi: 10.1016/j.athoracsur.2011.01.052. PMID: 21439546
Non-surgical bleeding in patients with ventricular assist devices could be explained by acquired von Willebrand disease.
Geisen U, Heilmann C, Beyersdorf F, Benk C, Berchtold-Herz M, Schlensak C, Budde U, Zieger B
Eur J Cardiothorac Surg 2008 Apr;33(4):679-84. Epub 2008 Feb 20 doi: 10.1016/j.ejcts.2007.12.047. PMID: 18282712

Diagnosis

Periprocedural management of type 2N von Willebrand disease with efanesoctocog alfa.
Ryu JH, Bauer KA, Schulman S
J Thromb Haemost 2023 Dec;21(12):3508-3510. Epub 2023 Sep 20 doi: 10.1016/j.jtha.2023.09.009. PMID: 37734716
Recessive von Willebrand disease type 2 Normandy: variable expression of mild hemophilia and VWD type 1.
Michiels JJ, Gadisseur A, Vangenegten I, Schroyens W, Berneman Z
Acta Haematol 2009;121(2-3):119-27. Epub 2009 Jun 8 doi: 10.1159/000214852. PMID: 19506358
Factor VIII-von Willebrand factor binding defects in autosomal recessive von Willebrand disease type Normandy and in mild hemophilia A. New insights into factor VIII-von Willebrand factor interactions.
Jacquemin M
Acta Haematol 2009;121(2-3):102-5. Epub 2009 Jun 8 doi: 10.1159/000214849. PMID: 19506355
Molecular mechanisms of mild and moderate hemophilia A.
Jacquemin M, De Maeyer M, D'Oiron R, Lavend'Homme R, Peerlinck K, Saint-Remy JM
J Thromb Haemost 2003 Mar;1(3):456-63. doi: 10.1046/j.1538-7836.2003.00088.x. PMID: 12871450
Molecular genetics of type 2 von Willebrand disease.
Fressinaud E, Mazurier C, Meyer D
Int J Hematol 2002 Jan;75(1):9-18. doi: 10.1007/BF02981973. PMID: 11843298

Therapy

Periprocedural management of type 2N von Willebrand disease with efanesoctocog alfa.
Ryu JH, Bauer KA, Schulman S
J Thromb Haemost 2023 Dec;21(12):3508-3510. Epub 2023 Sep 20 doi: 10.1016/j.jtha.2023.09.009. PMID: 37734716
Patients with severe aortic valve stenosis and impaired platelet function benefit from preoperative desmopressin infusion.
Steinlechner B, Zeidler P, Base E, Birkenberg B, Ankersmit HJ, Spannagl M, Quehenberger P, Hiesmayr M, Jilma B
Ann Thorac Surg 2011 May;91(5):1420-6. Epub 2011 Mar 24 doi: 10.1016/j.athoracsur.2011.01.052. PMID: 21439546
Recessive von Willebrand disease type 2 Normandy: variable expression of mild hemophilia and VWD type 1.
Michiels JJ, Gadisseur A, Vangenegten I, Schroyens W, Berneman Z
Acta Haematol 2009;121(2-3):119-27. Epub 2009 Jun 8 doi: 10.1159/000214852. PMID: 19506358
Factor VIII-von Willebrand factor binding defects in autosomal recessive von Willebrand disease type Normandy and in mild hemophilia A. New insights into factor VIII-von Willebrand factor interactions.
Jacquemin M
Acta Haematol 2009;121(2-3):102-5. Epub 2009 Jun 8 doi: 10.1159/000214849. PMID: 19506355
The role of VWF in the immunogenicity of FVIII.
Lacroix-Desmazes S, Repessé Y, Kaveri SV, Dasgupta S
Thromb Res 2008;122 Suppl 2:S3-6. doi: 10.1016/S0049-3848(08)70002-1. PMID: 18549909

Prognosis

Evaluation of clinical severity in patients with type 2N von Willebrand disease using microchip-based flow-chamber system.
Nakajima Y, Nogami K, Yada K, Kawamura T, Ogiwara K, Furukawa S, Shimonishi N, Takeyama M, Shima M
Int J Hematol 2020 Mar;111(3):369-377. Epub 2019 Nov 18 doi: 10.1007/s12185-019-02782-z. PMID: 31741138
Patients with severe aortic valve stenosis and impaired platelet function benefit from preoperative desmopressin infusion.
Steinlechner B, Zeidler P, Base E, Birkenberg B, Ankersmit HJ, Spannagl M, Quehenberger P, Hiesmayr M, Jilma B
Ann Thorac Surg 2011 May;91(5):1420-6. Epub 2011 Mar 24 doi: 10.1016/j.athoracsur.2011.01.052. PMID: 21439546
Molecular mechanisms of mild and moderate hemophilia A.
Jacquemin M, De Maeyer M, D'Oiron R, Lavend'Homme R, Peerlinck K, Saint-Remy JM
J Thromb Haemost 2003 Mar;1(3):456-63. doi: 10.1046/j.1538-7836.2003.00088.x. PMID: 12871450
An Arg760Cys mutation in the consensus sequence of the von Willebrand factor propeptide cleavage site is responsible for a new von Willebrand disease variant.
Casonato A, Sartorello F, Cattini MG, Pontara E, Soldera C, Bertomoro A, Girolami A
Blood 2003 Jan 1;101(1):151-6. Epub 2002 Aug 8 doi: 10.1182/blood-2002-04-1046. PMID: 12393698
Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor.
Allen S, Abuzenadah AM, Blagg JL, Hinks J, Nesbitt IM, Goodeve AC, Gursel T, Ingerslev J, Peake IR, Daly ME
Blood 2000 Mar 15;95(6):2000-7. PMID: 10706867

Clinical prediction guides

Cellular uptake of coagulation factor VIII: Elusive role of the membrane-binding spikes in the C1 domain.
Castro-Núñez L, Koornneef JM, Rondaij MG, Bloem E, van der Zwaan C, Mertens K, Meijer AB, Meems H
Int J Biochem Cell Biol 2017 Aug;89:34-41. Epub 2017 May 27 doi: 10.1016/j.biocel.2017.05.027. PMID: 28558995
Factor VIII alters tubular organization and functional properties of von Willebrand factor stored in Weibel-Palade bodies.
Bouwens EA, Mourik MJ, van den Biggelaar M, Eikenboom JC, Voorberg J, Valentijn KM, Mertens K
Blood 2011 Nov 24;118(22):5947-56. Epub 2011 Sep 22 doi: 10.1182/blood-2011-05-355354. PMID: 21940821
Factor VIII-von Willebrand factor binding defects in autosomal recessive von Willebrand disease type Normandy and in mild hemophilia A. New insights into factor VIII-von Willebrand factor interactions.
Jacquemin M
Acta Haematol 2009;121(2-3):102-5. Epub 2009 Jun 8 doi: 10.1159/000214849. PMID: 19506355
Molecular mechanisms of mild and moderate hemophilia A.
Jacquemin M, De Maeyer M, D'Oiron R, Lavend'Homme R, Peerlinck K, Saint-Remy JM
J Thromb Haemost 2003 Mar;1(3):456-63. doi: 10.1046/j.1538-7836.2003.00088.x. PMID: 12871450
Molecular genetics of type 2 von Willebrand disease.
Fressinaud E, Mazurier C, Meyer D
Int J Hematol 2002 Jan;75(1):9-18. doi: 10.1007/BF02981973. PMID: 11843298

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