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Von Willebrand disease type 2A(VWD2A)

MedGen UID:
220920
•Concept ID:
C1282968
•
Disease or Syndrome
Synonyms: Type 2A von Willebrand Disease; Type IIA von Willebrand Disease; von Willebrand Disease, Type 2A; von Willebrand Disease, Type IIA
SNOMED CT: Hereditary von Willebrand disease type 2A (359711001)
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 dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015628
OMIM®: 613160; 613554
Orphanet: ORPHA166084

Definition

A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.). [from ORDO]

Professional guidelines

PubMed

Recombinant coagulation factor VIIa in the management of bleeding in patients with von Willebrand disease type 2A.
Matyskova M, Vorlova Z, Habart D, Martinkova I, Bulikova A, Dulicek P, Ptak J
Transfus Apher Sci 2004 Aug;31(1):75-7. doi: 10.1016/j.transci.2004.05.002. PMID: 15294198

Recent clinical studies

Etiology

Differences and similarities in endothelial and angiogenic profiles of preeclampsia and COVID-19 in pregnancy.
Palomo M, Youssef L, Ramos A, Torramade-Moix S, Moreno-Castaño AB, Martinez-Sanchez J, Bonastre L, Pino M, Gomez-Ramirez P, Martin L, Garcia Mateos E, Sanchez P, Fernandez S, Crovetto F, Escolar G, Carreras E, Castro P, Gratacos E, Crispi F, Diaz-Ricart M
Am J Obstet Gynecol 2022 Aug;227(2):277.e1-277.e16. Epub 2022 Mar 26 doi: 10.1016/j.ajog.2022.03.048. PMID: 35351411Free PMC Article
von Willebrand disease type 2A phenotypes IIC, IID and IIE: A day in the life of shear-stressed mutant von Willebrand factor.
Brehm MA, Huck V, Aponte-Santamaría C, Obser T, Grässle S, Oyen F, Budde U, Schneppenheim S, Baldauf C, Gräter F, Schneider SW, Schneppenheim R
Thromb Haemost 2014 Jul 3;112(1):96-108. Epub 2014 Mar 6 doi: 10.1160/TH13-11-0902. PMID: 24598842
Aortic stenosis and acquired von Willebrand disease: lack of association.
Carrasco E, López R, Rattalino M, Lema G, Pereira J, Canessa R, Zalaquett R, Carvajal C, Carrasco P
J Cardiothorac Vasc Anesth 2011 Aug;25(4):615-8. Epub 2011 Apr 13 doi: 10.1053/j.jvca.2011.02.011. PMID: 21493091
Dominant von Willebrand disease type 2A groups I and II due to missense mutations in the A2 domain of the von Willebrand factor gene: diagnosis and management.
Michiels JJ, van Vliet HH
Acta Haematol 2009;121(2-3):154-66. Epub 2009 Jun 8 doi: 10.1159/000214856. PMID: 19506362
An association of candidate gene haplotypes and bleeding severity in von Willebrand disease type 2A, 2B, and 2M pedigrees.
Kunicki TJ, Baronciani L, Canciani MT, Gianniello F, Head SR, Mondala TS, Salomon DR, Federici AB
J Thromb Haemost 2006 Jan;4(1):137-47. doi: 10.1111/j.1538-7836.2005.01675.x. PMID: 16409463

Diagnosis

Differences and similarities in endothelial and angiogenic profiles of preeclampsia and COVID-19 in pregnancy.
Palomo M, Youssef L, Ramos A, Torramade-Moix S, Moreno-Castaño AB, Martinez-Sanchez J, Bonastre L, Pino M, Gomez-Ramirez P, Martin L, Garcia Mateos E, Sanchez P, Fernandez S, Crovetto F, Escolar G, Carreras E, Castro P, Gratacos E, Crispi F, Diaz-Ricart M
Am J Obstet Gynecol 2022 Aug;227(2):277.e1-277.e16. Epub 2022 Mar 26 doi: 10.1016/j.ajog.2022.03.048. PMID: 35351411Free PMC Article
A novel ELISA-based diagnosis of acquired von Willebrand disease with increased VWF proteolysis.
Rauch A, Caron C, Vincent F, Jeanpierre E, Ternisien C, Boisseau P, Zawadzki C, Fressinaud E, Borel-Derlon A, Hermoire S, Paris C, Lavenu-Bombled C, Veyradier A, Ung A, Vincentelli A, van Belle E, Lenting PJ, Goudemand J, Susen S
Thromb Haemost 2016 May 2;115(5):950-9. Epub 2016 Jan 21 doi: 10.1160/TH15-08-0638. PMID: 26791163
von Willebrand disease type 2A phenotypes IIC, IID and IIE: A day in the life of shear-stressed mutant von Willebrand factor.
Brehm MA, Huck V, Aponte-Santamaría C, Obser T, Grässle S, Oyen F, Budde U, Schneppenheim S, Baldauf C, Gräter F, Schneider SW, Schneppenheim R
Thromb Haemost 2014 Jul 3;112(1):96-108. Epub 2014 Mar 6 doi: 10.1160/TH13-11-0902. PMID: 24598842
High resolution multimer analysis and the PFA-100 platelet function analyser can detect von Willebrand disease type 2A without a pathological ratio of ristocetin cofactor activity and von Willebrand antigen level.
Weiss DR, Strasser EF, Ringwald J, Zimmermann R, Eckstein R
Clin Lab 2012;58(11-12):1203-9. PMID: 23289190
Dominant von Willebrand disease type 2A groups I and II due to missense mutations in the A2 domain of the von Willebrand factor gene: diagnosis and management.
Michiels JJ, van Vliet HH
Acta Haematol 2009;121(2-3):154-66. Epub 2009 Jun 8 doi: 10.1159/000214856. PMID: 19506362

Therapy

Severe Traumatic Brain Injury in a Patient with von Willebrand Disease Type 2A Successfully Treated with Factor VIII/von Willebrand Factor Concentrates: A Case Report.
Koroki T, Abe T, Kamimura S, Ochiai H
Am J Case Rep 2022 Aug 30;23:e936690. doi: 10.12659/AJCR.936690. PMID: 36040865Free PMC Article
Ex vivo Improvement of a von Willebrand Disease Type 2A Phenotype Using an Allele-Specific Small-Interfering RNA.
de Jong A, Dirven RJ, Boender J, Atiq F, Anvar SY, Leebeek FWG, van Vlijmen BJM, Eikenboom J
Thromb Haemost 2020 Nov;120(11):1569-1579. Epub 2020 Aug 15 doi: 10.1055/s-0040-1715442. PMID: 32803740Free PMC Article
A novel ELISA-based diagnosis of acquired von Willebrand disease with increased VWF proteolysis.
Rauch A, Caron C, Vincent F, Jeanpierre E, Ternisien C, Boisseau P, Zawadzki C, Fressinaud E, Borel-Derlon A, Hermoire S, Paris C, Lavenu-Bombled C, Veyradier A, Ung A, Vincentelli A, van Belle E, Lenting PJ, Goudemand J, Susen S
Thromb Haemost 2016 May 2;115(5):950-9. Epub 2016 Jan 21 doi: 10.1160/TH15-08-0638. PMID: 26791163
Aortic stenosis and acquired von Willebrand disease: lack of association.
Carrasco E, López R, Rattalino M, Lema G, Pereira J, Canessa R, Zalaquett R, Carvajal C, Carrasco P
J Cardiothorac Vasc Anesth 2011 Aug;25(4):615-8. Epub 2011 Apr 13 doi: 10.1053/j.jvca.2011.02.011. PMID: 21493091
Dominant von Willebrand disease type 2A groups I and II due to missense mutations in the A2 domain of the von Willebrand factor gene: diagnosis and management.
Michiels JJ, van Vliet HH
Acta Haematol 2009;121(2-3):154-66. Epub 2009 Jun 8 doi: 10.1159/000214856. PMID: 19506362

Prognosis

A synonymous (c.3390C>T) or a splice-site (c.3380-2A>G) mutation causes exon 26 skipping in four patients with von Willebrand disease (2A/IIE).
Pagliari MT, Baronciani L, Garcìa Oya I, Solimando M, La Marca S, Cozzi G, Stufano F, Canciani MT, Peyvandi F
J Thromb Haemost 2013 Jul;11(7):1251-9. doi: 10.1111/jth.12280. PMID: 23621778
Peritoneal dialysis is the therapy of choice for end-stage renal disease patients with hereditary clotting disorders.
Bajo MA, del Peso G, Jiménez V, Aguilera A, Villar A, Jiménez C, Selgas R
Adv Perit Dial 2000;16:170-3. PMID: 11045286

Clinical prediction guides

Differences and similarities in endothelial and angiogenic profiles of preeclampsia and COVID-19 in pregnancy.
Palomo M, Youssef L, Ramos A, Torramade-Moix S, Moreno-Castaño AB, Martinez-Sanchez J, Bonastre L, Pino M, Gomez-Ramirez P, Martin L, Garcia Mateos E, Sanchez P, Fernandez S, Crovetto F, Escolar G, Carreras E, Castro P, Gratacos E, Crispi F, Diaz-Ricart M
Am J Obstet Gynecol 2022 Aug;227(2):277.e1-277.e16. Epub 2022 Mar 26 doi: 10.1016/j.ajog.2022.03.048. PMID: 35351411Free PMC Article
A novel ELISA-based diagnosis of acquired von Willebrand disease with increased VWF proteolysis.
Rauch A, Caron C, Vincent F, Jeanpierre E, Ternisien C, Boisseau P, Zawadzki C, Fressinaud E, Borel-Derlon A, Hermoire S, Paris C, Lavenu-Bombled C, Veyradier A, Ung A, Vincentelli A, van Belle E, Lenting PJ, Goudemand J, Susen S
Thromb Haemost 2016 May 2;115(5):950-9. Epub 2016 Jan 21 doi: 10.1160/TH15-08-0638. PMID: 26791163
von Willebrand disease type 2A phenotypes IIC, IID and IIE: A day in the life of shear-stressed mutant von Willebrand factor.
Brehm MA, Huck V, Aponte-Santamaría C, Obser T, Grässle S, Oyen F, Budde U, Schneppenheim S, Baldauf C, Gräter F, Schneider SW, Schneppenheim R
Thromb Haemost 2014 Jul 3;112(1):96-108. Epub 2014 Mar 6 doi: 10.1160/TH13-11-0902. PMID: 24598842
A synonymous (c.3390C>T) or a splice-site (c.3380-2A>G) mutation causes exon 26 skipping in four patients with von Willebrand disease (2A/IIE).
Pagliari MT, Baronciani L, Garcìa Oya I, Solimando M, La Marca S, Cozzi G, Stufano F, Canciani MT, Peyvandi F
J Thromb Haemost 2013 Jul;11(7):1251-9. doi: 10.1111/jth.12280. PMID: 23621778
An association of candidate gene haplotypes and bleeding severity in von Willebrand disease type 2A, 2B, and 2M pedigrees.
Kunicki TJ, Baronciani L, Canciani MT, Gianniello F, Head SR, Mondala TS, Salomon DR, Federici AB
J Thromb Haemost 2006 Jan;4(1):137-47. doi: 10.1111/j.1538-7836.2005.01675.x. PMID: 16409463

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