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Von Willebrand disease type 2B(VWD2B)

MedGen UID:
224831
•Concept ID:
C1282971
•
Disease or Syndrome
Synonyms: Type 2B von Willebrand Disease; Type IIB von Willebrand Disease; von Willebrand Disease, Type 2B; von Willebrand Disease, Type IIB
SNOMED CT: Hereditary von Willebrand disease type 2B (359717002)
Modes of inheritance:
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 dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015629
OMIM®: 613160; 613554
Orphanet: ORPHA166087

Definition

A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with increased affinity of the Willebrand factor (VWF) for platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and VWF from the plasma. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.). [from ORDO]

Professional guidelines

PubMed

Challenges in the management of women with type 2B von Willebrand disease during pregnancy and the postpartum period: evidence from literature and data from an international registry and physicians' survey-communication from the Scientific and Standardization Committees of the International Society on Thrombosis and Haemostasis.
Miljic P, Noureldin A, Lavin M, Kazi S, Sanchez-Luceros A, James PD, Othman M
J Thromb Haemost 2023 Jan;21(1):154-163. Epub 2022 Dec 22 doi: 10.1016/j.jtha.2022.10.019. PMID: 36695378
Management of Type 2B von Willebrand Disease during Pregnancy.
McLaughlin D, Kerr R
Acta Haematol 2017;137(2):89-92. Epub 2017 Jan 25 doi: 10.1159/000453389. PMID: 28118618

Recent clinical studies

Etiology

Phenotypic Parameters in Genotypically Selected Type 2B von Willebrand Disease Patients: A Large, Single-Center Experience Including a New Novel Mutation.
Woods AI, Kempfer AC, Paiva J, Sanchez-Luceros A, Bermejo E, Chuit R, Alberto MF, Blanco AN, Lazzari MA
Semin Thromb Hemost 2017 Feb;43(1):92-100. Epub 2016 Dec 15 doi: 10.1055/s-0036-1597293. PMID: 27978591
Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients.
Federici AB, Mannucci PM, Castaman G, Baronciani L, Bucciarelli P, Canciani MT, Pecci A, Lenting PJ, De Groot PG
Blood 2009 Jan 15;113(3):526-34. Epub 2008 Sep 19 doi: 10.1182/blood-2008-04-152280. PMID: 18805962

Diagnosis

Type 2B von Willebrand Disease: Early Manifestation as Neonatal Thrombocytopenia.
Kranzhöfer D, Pavlova A, Schneider H, Franck P, Glonnegger H, Büchsel M, Yoshimi-Nöllke A, Oldenburg J, Zieger B
Hamostaseologie 2021 Dec;41(6):469-474. Epub 2021 Dec 23 doi: 10.1055/a-1665-6185. PMID: 34942660
Von Willebrand disease type 2B with a novel mutation in the VWF gene.
Jeraiby MA, Sophie S, Caron C, Campos L, Brigitte T
Ann Saudi Med 2021 Jan-Feb;41(1):59-61. Epub 2021 Feb 4 doi: 10.5144/0256-4947.2021.59. PMID: 33550910Free PMC Article
Ristocetin-Induced Platelet Aggregation (RIPA) and RIPA Mixing Studies.
Frontroth JP, Favaloro EJ
Methods Mol Biol 2017;1646:473-494. doi: 10.1007/978-1-4939-7196-1_35. PMID: 28804849
von Willebrand disease type 2B.
McGinnis E, Vercauteren SM
Blood 2017 Jan 26;129(4):538. doi: 10.1182/blood-2016-09-729434. PMID: 28126959
von Willebrand disease type 2B.
McGinnis E, Vercauteren SM
Blood 2016 Dec 8;128(23):2743. doi: 10.1182/blood-2016-08-729459. PMID: 27932330

Therapy

Use of a thrombopoietin receptor agonist in von Willebrand disease type 2B (p.V1316M) with severe thrombocytopenia and intracranial hemorrhage.
Espitia O, Ternisien C, Agard C, Boisseau P, Denis CV, Fouassier M
Platelets 2017 Jul;28(5):518-520. Epub 2016 Nov 25 doi: 10.1080/09537104.2016.1246717. PMID: 27885890
Spontaneous intramural duodenal hematoma in type 2B von Willebrand disease.
Eichele DD, Ross M, Tang P, Hutchins GF, Mailliard M
World J Gastroenterol 2013 Nov 7;19(41):7205-8. doi: 10.3748/wjg.v19.i41.7205. PMID: 24222967Free PMC Article
Mutation and ADAMTS13-dependent modulation of disease severity in a mouse model for von Willebrand disease type 2B.
Rayes J, Hollestelle MJ, Legendre P, Marx I, de Groot PG, Christophe OD, Lenting PJ, Denis CV
Blood 2010 Jun 10;115(23):4870-7. Epub 2010 Mar 3 doi: 10.1182/blood-2009-11-254193. PMID: 20200350

Prognosis

Type 2B von Willebrand Disease: Early Manifestation as Neonatal Thrombocytopenia.
Kranzhöfer D, Pavlova A, Schneider H, Franck P, Glonnegger H, Büchsel M, Yoshimi-Nöllke A, Oldenburg J, Zieger B
Hamostaseologie 2021 Dec;41(6):469-474. Epub 2021 Dec 23 doi: 10.1055/a-1665-6185. PMID: 34942660
Spontaneous intramural duodenal hematoma in type 2B von Willebrand disease.
Eichele DD, Ross M, Tang P, Hutchins GF, Mailliard M
World J Gastroenterol 2013 Nov 7;19(41):7205-8. doi: 10.3748/wjg.v19.i41.7205. PMID: 24222967Free PMC Article
Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients.
Federici AB, Mannucci PM, Castaman G, Baronciani L, Bucciarelli P, Canciani MT, Pecci A, Lenting PJ, De Groot PG
Blood 2009 Jan 15;113(3):526-34. Epub 2008 Sep 19 doi: 10.1182/blood-2008-04-152280. PMID: 18805962

Clinical prediction guides

Type 2B von Willebrand Disease: Early Manifestation as Neonatal Thrombocytopenia.
Kranzhöfer D, Pavlova A, Schneider H, Franck P, Glonnegger H, Büchsel M, Yoshimi-Nöllke A, Oldenburg J, Zieger B
Hamostaseologie 2021 Dec;41(6):469-474. Epub 2021 Dec 23 doi: 10.1055/a-1665-6185. PMID: 34942660
Phenotypic Parameters in Genotypically Selected Type 2B von Willebrand Disease Patients: A Large, Single-Center Experience Including a New Novel Mutation.
Woods AI, Kempfer AC, Paiva J, Sanchez-Luceros A, Bermejo E, Chuit R, Alberto MF, Blanco AN, Lazzari MA
Semin Thromb Hemost 2017 Feb;43(1):92-100. Epub 2016 Dec 15 doi: 10.1055/s-0036-1597293. PMID: 27978591
A genetically-engineered von Willebrand disease type 2B mouse model displays defects in hemostasis and inflammation.
Adam F, Casari C, Prévost N, Kauskot A, Loubière C, Legendre P, Repérant C, Baruch D, Rosa JP, Bryckaert M, de Groot PG, Christophe OD, Lenting PJ, Denis CV
Sci Rep 2016 May 23;6:26306. doi: 10.1038/srep26306. PMID: 27212476Free PMC Article
Apoptotic Platelet Events Are Not Observed in Severe von Willebrand Disease-Type 2B Mutation p.V1316M.
Berrou E, Kauskot A, Adam F, Harel A, Legendre P, Lavenu Bombled C, Rothschild C, Prevost N, Christophe OD, Lenting PJ, Denis CV, Rosa JP, Bryckaert M
PLoS One 2015;10(12):e0143896. Epub 2015 Dec 8 doi: 10.1371/journal.pone.0143896. PMID: 26645283Free PMC Article
Mutation and ADAMTS13-dependent modulation of disease severity in a mouse model for von Willebrand disease type 2B.
Rayes J, Hollestelle MJ, Legendre P, Marx I, de Groot PG, Christophe OD, Lenting PJ, Denis CV
Blood 2010 Jun 10;115(23):4870-7. Epub 2010 Mar 3 doi: 10.1182/blood-2009-11-254193. PMID: 20200350

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