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von Willebrand's Disease, type 3 (Discovered in the Scottish Terrier)

von Willebrand's Disease (vWD) Type 3 is a clotting disorder that causes severe bleeding tendencies in affected dogs.

Key Signs

Bleeding following surgery or trauma, Bleeding from the nose, Bleeding from the gums, Gastrointestinal bleeding, Blood in the urine

Age of Onset

At birth

Present at birth

Inheritance

Autosomal Recessive

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.

Likelihood of the Condition

High likelihood

At risk dogs are highly likely to show signs of this disease in their lifetime.

What to Do

Here’s how to care for a dog with vWD type 3

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.

For Veterinarians

Here’s what a vet needs to know about vWD type 3

Type 3 von Willebrand’s disease is a moderate to severe clotting disorder. Typical clinical signs include mucosal bleeding, such as nose bleeding, 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 no appreciable levels of vWF present; specific vWF factor can be assayed at a reference laboratory. Performing a functional test like a buccal-mucosal bleeding time prior to surgery is recommended.

Some dogs may respond to desmopressin acetate (DDAVP) therapy. In most cases, 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.

For Breeders

Planning to breed a dog with this genetic variant?

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 3 mutation can be safely bred with a clear dog with no copies of the vWD type 3 mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the vWD type 3 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. Use of affected individual for breeding purposes are not recommended for this condition. Please note: It is possible that disease signs similar to the ones caused by the vWD type 3 mutation could develop due to a different genetic or clinical cause.

Technical Details

Gene VWF
Variant Deletion
Chromosome 27
Coordinate 38,848,107

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

Pathak EJ. Type 3 von Willebrand's disease in a Shetland sheepdog. Can Vet J 45(8):685-687, 2004. View the article

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. View the article

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 / American College of Veterinary Internal Medicine, 14(1), 10–19. View the article

Ackerman L. The Genetic Connection. Lakewood: American Animal Hospital Association Press, 2011. View the article