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von Willebrand disease type 2N(VWD2N)

MedGen UID:
266187
•Concept ID:
C1282975
•
Disease or Syndrome
Synonym: VWD2N
SNOMED CT: von Willebrand disease type 2N (359732009); Hereditary von Willebrand disease type 2N (359732009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015631
OMIM®: 613160; 613554
Orphanet: ORPHA166093

Definition

A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (VWF) for factor VIII (FVIII). Abnormal bleeding manifestations are less frequent in this VWD subtype than in other forms of the disease. The disease manifests mainly as soft tissue bleeding (haematoma, post-operative bleeding, etc.). [from ORDO]

Professional guidelines

PubMed

Type 2N von Willebrand disease: genotype drives different bleeding phenotypes and treatment needs.
Daniel MY, Ternisien C, Castet S, Falaise C, D'Oiron R, Volot F, Itzhar N, Pan-Petesch B, Jeanpierre E, Paris C, Zawadzki C, Desvages M, Dupont A, Veyradier A, Repessé Y, Babuty A, Trossaërt M, Boisseau P, Denis CV, Lenting PJ, Goudemand J, Rauch A, Susen S
J Thromb Haemost 2024 Oct;22(10):2702-2712. Epub 2024 Jul 9 doi: 10.1016/j.jtha.2024.06.020. PMID: 38992343
Are Iranian patients with von Willebrand disease type 2N properly differentiated from hemophilia A and do they receive appropriate treatment?
Seidi Zadeh O, Ahmadinejad M, Amoohossein B, Homayoun S
Blood Coagul Fibrinolysis 2020 Sep;31(6):382-386. doi: 10.1097/MBC.0000000000000932. PMID: 32815913
Management of pregnancy complications in type 2N von Willebrand disease associated to a novel mutation.
Brennan Y, Favaloro EJ, Curtin J, Curnow J
Haemophilia 2018 May;24(3):e148-e152. Epub 2018 Apr 14 doi: 10.1111/hae.13481. PMID: 29656540

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
Clinical phenotype in genetically confirmed von Willebrand disease type 2N patients reflects a haemophilia A phenotype.
van Meegeren ME, Mancini TL, Schoormans SC, van Haren BJ, van Duren C, Diekstra A, Laros-van Gorkom BA, Brons PP, Simons A, Hoefsloot L, van Heerde WL
Haemophilia 2015 Sep;21(5):e375-83. Epub 2015 Jul 24 doi: 10.1111/hae.12733. PMID: 26207643
Moderation of hemophilia A phenotype by the factor V R506Q mutation.
Nichols WC, Amano K, Cacheris PM, Figueiredo MS, Michaelides K, Schwaab R, Hoyer L, Kaufman RJ, Ginsburg D
Blood 1996 Aug 15;88(4):1183-7. PMID: 8695835

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
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
Are Iranian patients with von Willebrand disease type 2N properly differentiated from hemophilia A and do they receive appropriate treatment?
Seidi Zadeh O, Ahmadinejad M, Amoohossein B, Homayoun S
Blood Coagul Fibrinolysis 2020 Sep;31(6):382-386. doi: 10.1097/MBC.0000000000000932. PMID: 32815913
A new method measuring the interaction between von Willebrand factor and coagulation factor VIII.
Karlman M, Holmström M, Wiman B
Thromb Res 2011 Jan;127(1):47-50. Epub 2010 Nov 20 doi: 10.1016/j.thromres.2010.10.024. PMID: 21094987
Measurement of von Willebrand factor-FVIII binding activity in patients with suspected von Willebrand disease type 2N: application of an ELISA-based assay in a reference laboratory.
Zhukov O, Popov J, Ramos R, Vause C, Ruden S, Sferruzza A, Dlott J, Sahud M
Haemophilia 2009 May;15(3):788-96. Epub 2009 Feb 27 doi: 10.1111/j.1365-2516.2009.01995.x. PMID: 19298374

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
Exome-based search for recurrent disease-causing alleles in Russian population.
Yanus GA, Akhapkina TA, Whitehead AJ, Bizin IV, Iyevleva AG, Kuligina ES, Aleksakhina SN, Anisimova MO, Holmatov MM, Romanko AA, Zaitseva OA, Yatsuk OS, Zagorodnev KA, Matsneva MA, Koloskov AV, Togo AV, Suspitsin EN, Imyanitov EN
Eur J Med Genet 2019 Jul;62(7):103656. Epub 2019 Apr 24 doi: 10.1016/j.ejmg.2019.04.013. PMID: 31028847
Life-threatening bleeding in a patient with mild hemophilia A and heterozygosity for von Willebrand disease Type 2N.
Allan JN, Friedman KD, DeSancho MT
Int J Hematol 2014 Dec;100(6):602-6. Epub 2014 Sep 12 doi: 10.1007/s12185-014-1662-3. PMID: 25212677
Results of a screening for von Willebrand disease type 2N in patients with suspected haemophilia A or von Willebrand disease type 1.
Schneppenheim R, Budde U, Krey S, Drewke E, Bergmann F, Lechler E, Oldenburg J, Schwaab R
Thromb Haemost 1996 Oct;76(4):598-602. PMID: 8903002

Prognosis

Life-threatening bleeding in a patient with mild hemophilia A and heterozygosity for von Willebrand disease Type 2N.
Allan JN, Friedman KD, DeSancho MT
Int J Hematol 2014 Dec;100(6):602-6. Epub 2014 Sep 12 doi: 10.1007/s12185-014-1662-3. PMID: 25212677
A new method measuring the interaction between von Willebrand factor and coagulation factor VIII.
Karlman M, Holmström M, Wiman B
Thromb Res 2011 Jan;127(1):47-50. Epub 2010 Nov 20 doi: 10.1016/j.thromres.2010.10.024. PMID: 21094987

Clinical prediction guides

Are Iranian patients with von Willebrand disease type 2N properly differentiated from hemophilia A and do they receive appropriate treatment?
Seidi Zadeh O, Ahmadinejad M, Amoohossein B, Homayoun S
Blood Coagul Fibrinolysis 2020 Sep;31(6):382-386. doi: 10.1097/MBC.0000000000000932. PMID: 32815913
Clinical phenotype in genetically confirmed von Willebrand disease type 2N patients reflects a haemophilia A phenotype.
van Meegeren ME, Mancini TL, Schoormans SC, van Haren BJ, van Duren C, Diekstra A, Laros-van Gorkom BA, Brons PP, Simons A, Hoefsloot L, van Heerde WL
Haemophilia 2015 Sep;21(5):e375-83. Epub 2015 Jul 24 doi: 10.1111/hae.12733. PMID: 26207643
A new method measuring the interaction between von Willebrand factor and coagulation factor VIII.
Karlman M, Holmström M, Wiman B
Thromb Res 2011 Jan;127(1):47-50. Epub 2010 Nov 20 doi: 10.1016/j.thromres.2010.10.024. PMID: 21094987
Results of a screening for von Willebrand disease type 2N in patients with suspected haemophilia A or von Willebrand disease type 1.
Schneppenheim R, Budde U, Krey S, Drewke E, Bergmann F, Lechler E, Oldenburg J, Schwaab R
Thromb Haemost 1996 Oct;76(4):598-602. PMID: 8903002

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