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Hereditary von Willebrand disease

MedGen UID:
1814986
Concept ID:
C5703318
Disease or Syndrome
Synonyms: congenital von willebrand disease; congenital von willebrand's disease; hereditary von Willebrand disease; hereditary von Willebrand disease (hereditary or acquired); vascular pseudohemophilia; Von Willebrand disease; von Willebrand's disease; von Willebrand-Jrgens disease
SNOMED CT: Hereditary von Willebrand disease (1259242002)
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.
 
Gene (location): VWF (12p13.31)
Related gene: GP1BA
 
Monarch Initiative: MONDO:0019565
Orphanet: ORPHA903

Disease characteristics

Excerpted from the GeneReview: Von Willebrand Disease
Von Willebrand disease (VWD) is characterized by mucocutaneous bleeding and excessive bleeding with trauma and procedures. Individuals with more severe forms of VWD are also at-risk for musculoskeletal bleeding. Mucocutaneous bleeding can include easy bruising, prolonged bleeding from minor wounds, epistaxis, oral cavity bleeding, heavy menstrual bleeding, gastrointestinal bleeding, and bleeding with hemostatic challenges such as dental work, childbirth, and surgery. Bleeding severity can vary widely in VWD, even between affected individuals within the same family. For some with VWD the bleeding phenotype may only become apparent upon hemostatic challenge, while others may have frequent spontaneous bleeding. [from GeneReviews]
Authors:
Jill Johnsen   view full author information

Professional guidelines

PubMed

Kubo M, Matsumoto M
Int J Hematol 2023 Mar;117(3):331-340. Epub 2023 Feb 9 doi: 10.1007/s12185-023-03552-8. PMID: 36757521
Lavin M, O'Donnell JS
Hematology Am Soc Hematol Educ Program 2016 Dec 2;2016(1):683-689. doi: 10.1182/asheducation-2016.1.683. PMID: 27913547Free PMC Article
Neutze D, Roque J
Am Fam Physician 2016 Feb 15;93(4):279-86. PMID: 26926815

Recent clinical studies

Diagnosis

Sucker C, Senft B, Scharf RE, Zotz RB
Clin Appl Thromb Hemost 2006 Jul;12(3):305-10. doi: 10.1177/1076029606291428. PMID: 16959683
Gupta PK, Kannan M, Chatterjee T, Dixit A, Mahapatra M, Choudhry VP, Saxena R
Haemophilia 2006 Jul;12(4):452-5. doi: 10.1111/j.1365-2516.2006.01301.x. PMID: 16834752
Elli M, Pinarli FG, Dagdemir A, Dabak N, Fisgin T, Selcuk MB, Sultansuyu S, Acar S
Pediatr Hematol Oncol 2006 Mar;23(2):111-4. doi: 10.1080/08880010500457749. PMID: 16651239
Nitu-Whalley IC, Lee CA
Haemophilia 1999 Sep;5(5):318-26. doi: 10.1046/j.1365-2516.1999.00340.x. PMID: 10583513

Therapy

Elli M, Pinarli FG, Dagdemir A, Dabak N, Fisgin T, Selcuk MB, Sultansuyu S, Acar S
Pediatr Hematol Oncol 2006 Mar;23(2):111-4. doi: 10.1080/08880010500457749. PMID: 16651239
Schwarz HP, Dorner F, Mitterer A, Mundt W, Schlokat U, Pichler L, Turecek PL
Wien Klin Wochenschr 1999 Mar 12;111(5):181-91. PMID: 10226348
Schwarz HP, Dorner F, Mitterer A, Mundt W, Schlokat U, Pichler L, Turecek PL
Haemophilia 1998;4 Suppl 3:53-62. doi: 10.1046/j.1365-2516.1998.0040s3053.x. PMID: 10028320

Prognosis

Sucker C, Senft B, Scharf RE, Zotz RB
Clin Appl Thromb Hemost 2006 Jul;12(3):305-10. doi: 10.1177/1076029606291428. PMID: 16959683
Elli M, Pinarli FG, Dagdemir A, Dabak N, Fisgin T, Selcuk MB, Sultansuyu S, Acar S
Pediatr Hematol Oncol 2006 Mar;23(2):111-4. doi: 10.1080/08880010500457749. PMID: 16651239

Clinical prediction guides

Sucker C, Senft B, Scharf RE, Zotz RB
Clin Appl Thromb Hemost 2006 Jul;12(3):305-10. doi: 10.1177/1076029606291428. PMID: 16959683

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