Quick Summary
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: German Shorthaired Pointer, German Wirehaired Pointer
Explanation of Results:
- Dogs with N/N genotype will not have Von Willebrand disease Type 2 and cannot transmit this variant to their offspring.
- Dogs with N/vWF genotype are unlikely to develop Von Willebrand disease Type 2, but are carriers. They may transmit this variant to 50% of their offspring. Matings between two carriers are predicted to produce 25% Von Willebrand disease Type 2-affected puppies.
- Dogs with vWF/vWF genotype may be affected and develop Von Willebrand disease Type 2, 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)
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 2 is rare and associated with abnormal structure and function of vWF. Two mutations in vWF (c.4937A>G and c.1657T>G) are associated with this disorder, but the later is considered causative. vWD Type 2 appears to be inherited as a recessive trait, as only dogs with 2 copies of the c.1657T>G variant had a history of prolonged bleeding according to Von-Loohuis et al. 2017. It occurs in German Shorthaired Pointer and German Wirehaired Pointer breeds. The VGL test is based on the c.1657T>G mutation.
Testing for vWD Type 1, vWD Type 2, and vWD Type 3 can help breeders determine the genetic status of breeding stock and risk for bleeding disorders. Veterinarians can use test results to confirm clinical findings and inform appropriate courses of treatment or management.
Species
Breed
Type of Test
| Test Result | Von Willebrand Disease II (vWD Type 2) |
|---|---|
| N/N | Normal. No copies of vWF mutaiton associated with vWD Type 2. |
| N/vWF | 1 copy of vWF mutation. Dog is unlikely to develop vWD Type 2. |
| vWF/vWF | 2 copies of vWF mutation. Dog is affected and may develop vWD Type 2. |
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
