Present at birth
For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.
At risk dogs may show signs of this disease in their lifetime, although some will not develop the condition due to absence of additional risk factors.
Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.
Type 2 von Willebrand’s disease is a moderate to severe clotting disorder. Typical symptoms include mucosal bleeding, such as epistaxis, bleeding from the gums, gastrointestinal bleeding, and blood in the urine. Exceptionally excessive and prolonged bleeding may be observed after a trauma or surgery, and spontaneous bleeding may also be encountered. This condition can lead to death if untreated. Most affected dogs will have a normal PT/aPTT but have prolonged bleeding. When assayed, these dogs have low levels of vWF present; specific vWF factor can be assayed at a reference laboratory. Performing a functional test like a buccal-mucusal bleeding time prior to surgery is recommended.
Therapy is limited to supportive care (which can include transfusions if needed) and avoiding surgery. Performing a functional test like a buccal-mucusal bleeding time prior to surgery is recommended.
There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.
This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to develop. A carrier dog with one copy of the vWD type 2 mutation can be safely bred with a clear dog with no copies of the vWD type 2 mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the vWD type 2 mutation. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the vWD type 2 mutation could develop due to a different genetic or clinical cause.
Gene | VWF |
---|---|
Variant | T>G |
Chromosome | 27 |
Coordinate | 38,887,211 |
All coordinates reference CanFam3.1
Kramer, J. W., Venta, P. J., Klein, S. R., Cao, Y., Schall, W. D., & Yuzbasiyan-Gurkan, V. (2004). A von willebrand’s factor genomic nucleotide variant and polymerase chain reaction diagnostic test associated with inheritable type-2 von willebrand’s disease in a line of german shorthaired pointer dogs. Veterinary Pathology, 41(3), 221–228. View the article
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. View the article
Ackerman L. The Genetic Connection. Lakewood: American Animal Hospital Association Press, 2011. View the article