Von Willebrand Disease III (vWD Type 3)

Quick Summary

Von Willebrand disease III (vWD Type 3), an inherited bleeding disorder, results from a lack or reduced level of a normal blood clotting protein and is characterized by spontaneous hemorrhaging and prolonged bleeding after physical trauma. vWD Type 3 is the most severe form.

Phenotype: Von Willebrand disease (vWD) is an inherited bleeding disorder resulting from a lack or reduced level of a normal blood clotting protein called von Willebrand factor (vWF). Disease presentation varies from asymptomatic to spontaneous hemorrhaging and prolonged bleeding after injury, surgery, or giving birth. Age of onset varies with some dogs only becoming obvious “bleeders” later in life. Without medical intervention, uncontrolled bleeding can result in death.

Mode of Inheritance: Autosomal recessive

Alleles: N = Normal/Unaffected, vWF = Von Willebrand disease (vWD)

Breeds appropriate for testing: Deutsch Kooiker, Scottish Terrier, Shetland Sheepdog

Explanation of Results:

  • Dogs with N/N genotype will not have Von Willebrand disease Type 3 and cannot transmit this variant to their offspring.
  • Dogs with N/vWF genotype are not expected to have Von Willebrand disease Type 3, but are carriers. They may transmit this variant to 50% of their offpspring. Matings between two carriers are predicted to produce 25% Von Willebrand disease Type 3-affected puppies.
  • Dogs with vWF/vWF genotype may be affected and develop Von Willebrand disease Type 3, a blood clotting disorder. They will transmit this variant to all of their offspring.

Results of this test can be submitted to the OFA (Orthopedic Foundation for Animals)

Price

$50 one test per animal
$30 as additional test (same animal)
Additional $5 discount on 3 or more dogs

Additional Details

Von Willebrand disease (vWD) is an inherited bleeding disorder resulting from a lack or reduced level of a normal blood clotting protein called von Willebrand factor (vWF). Disease presentation varies from asymptomatic to spontaneous hemorrhaging and prolonged bleeding after injury, surgery, or giving birth. Furthermore, age of onset varies with some dogs only becoming obvious “bleeders” later in life. Without medical intervention, uncontrolled bleeding can result in death. Several genetic mutations that prevent normal functioning of vWF have been identified. These mutations are associated with different clinical bleeding disorders known as vWD Type 1, Type 2, and Type 3.

vWD Type 3 is the most severe form of bleeding disorders and it is caused by a complete lack of vWF in the blood. Three mutations are associated with this type of disorder: vWF (Int16G>A, denoted vWFk) occurs in Dutch Kooiker, vWF (c.255Cdel, denoted as vWFt) occurs in Scottish Terriers and vWF (c.735Tdel, denoted vWFs) occurs in Shetland Sheepdog. vWD Type 3 is inherited as a recessive trait which means that 2 copies of the defective gene are needed to cause the disorder.

Genetic tests for vWD Type 1, vWD Type 2, and vWD Type 3 are offered by the VGL. Results from these tests can help breeders determine the genetic status of breeding stock and risk for bleeding disorder. For the recessive vWD Type 3, test results inform breeders to avoid matings between carriers, which could produce 25% of affected offspring. Veterinarians can use test results to confirm clinical findings and inform appropriate courses of treatment or management.

 

Note: The vWD Type 1, vWD Type 2 and vWD Type 3 mutations have different breed origins and distributions and thus test selection needs to be breed-appropriate. See "Breeds appropriate for testing" list on each page.
Turnaround Time
5-10 business days

Species

Dog

Type of Test

Results Reported As
Test Result Von Willebrand Disease III (vWD Type 3)
N/N Normal. No copies of vWF mutations associated with vWD Type 3.
N/vWF 1 copy of vWF* mutation. Dog is normal but can pass on the mutation to 50% of offspring.
vWF/vWF 2 copies of vWF* mutation. Dog is affected and may develop vWD Type 3.

* Report will specify vWD Type 3 mutations as vWFk (Deustch Kooiker), vWFt (Scottish Terrier) or vWFs (Shetland Sheedog)

References

Rieger, M., Schwarz, H. P., Turecek, P. L., Dorner, F., van Mourik, J. A., & Mannhalter, C. (1998). Identification of mutations in the canine von Willebrand factor gene associated with type III von Willebrand disease. Thrombosis and Haemostasis, 80(2), 332-337.

Venta, P. J., Li, J., Yuzbasiyan-Gurkan, V., Brewer, G. J., & Schall, W. D. (2000). Mutation causing von Willebrand’s Disease in Scottish Terriers. Journal of Veterinary Internal Medicine, 14(1), 10-19. doi: 10.1111/j.1939-1676.2000.tb01493.x

Brooks, M. B., Erb, H. N., Foureman, P. A., & Ray, K. (2001). von Willebrand disease phenotype and von Willebrand factor marker genotype in Doberman Pinschers. American Journal of Veterinary Research, 62(3), 364-369.

Donner, J., Kaukonen, M., Anderson, H., Moller, F., Kyostila, K., Sankari, S., Hytonen, M., Giger, U., & Lohi, H. (2016). Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders. PLoS One, 11(8). doi: 10.1371/journal.pone.0161005

Vos-Loohuis, M., van Oost, B. A., Dangel, C., Langbein-Detsch, I., & Leegwater, P. A. (2017). A novel VWF variant associated with type 2 von Willebrand disease in German Wirehaired Pointers and German Shorthaired Pointers. Animal Genetics, 48(4), 493-496. doi: 10.1111/age.12544

Crespi, J. A., Barrientos, L.S., & Giovambattista, G. (2018). von Willebrand disease type 1 in Doberman Pinscher dogs: genotyping and prevalence of the mutation in the Buenos Aires region, Argentina. Journal of Veterinary Diagnostic Investigation, 30(2), 310-314. doi: 10.1177/1040638717750429