Testing of dogs: VWD type I

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von Willebrand disease

Von Willebrand disease (vWD) is caused by plasmatic von Willebrand factor (vWF) insufficiency. VWF is a blood glycoprotein (not enzyme) important for blood coagulability.

Its primary function is to bind itself to other proteins (for example it stabilizes Factor VIII), and also facilitates aggregation and adhesion of the trombocytes to wound site. The deficiency or failure of vWF function causes bleeding which is most apparent in tissues having high blood flow shear in narrow vessels. VWD manifests oneself as a tendency to bleeding from skin and tissues. The disease can be inheritable or acquired.

In dogs (as well as in people), there were identified three types of vWD. Several gene variants associated with von Willebrand's disease have been identified. It is probable, that another variants will be found in the future.

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vWD type I

VWD type I is the most often and simultaneously the least serious form of mammalian vWD. It is inherited autosomal recessively. The disease is characteristic by low plasma vWF concentration and normal vWF protein structure.

Affected dogs may suffer from bleeding problems, usually not very serious. vWD type I occurs, for example, in dog breeds:

  • Bernese mountain dog
  • Doberman pinscher
  • Manchester terrier
  • Kerry blue terrier
  • Welsh Corgi Pembroke
  • Poodle
  • Labradoodle
  • Goldendoodle
  • Miniature Schnauzer
  • Basethound
  • German Shepherd
  • Rotttweiler
  • Keeshound
  • Dachshund (standard, mini)
  • Coton de Tulear
  • Drentsche Patrijschond
  • Papillion
  • Stabyhoun

The casual mutation in this breed is c.7437G>A in exon 43 of vWF-gene (NM_001002932.1). The mutation occurs at a splice site where in healthy dogs (genotype c.7437GG) splicing takes place during synthesis of von Willebrand factor. In addition, there is an alternative splice site that is activated if the variant c.7437A is present.  Consequently, the von Willebrand factor is also created in the body of an affected individual, however, with a different number of amino acids. The presence of this cryptic vWF prevents prolonged and excessive bleeding.

The mutation is inherited autosomal recessively, which means that the disease occurs only in individuals, who inherit mutation from both biological parents. The individuals with one mutated allele are disease carriers without any clinical symptoms.

In the Doberman pinscher population in the USA there is about 36% vWD affected dogs and about 48% of carriers. The frequency of mutated gene in the whole population is estimated on a level of 60% (Brewer 2006).

References:

Brewer, G: DNA Studies in Doberman von Willebrand's Disease. The Mutation Discovered and a DNA Test Developed.

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Breed list - total 31 different breeds. Show list of all breeds Hide breeds

Usual turnaround time: 4 business days
1 test price: 50.00 $ without VAT