UC Davis School of Veterinary Medicine Veterinary Genetics Laboratory

Von Willebrand's Disease

Von Willebrand's disease (vWD) is an inherited bleeding disorder resulting from a lack or change of a normal blood clotting protein called von Willebrand factor (vWF). Several recessive genetic mutations that prevent normal functioning of vWF have been identified. vWFI (c.7437G>A), vWFII (c.4937A>G) and vWFIII (Int16G>A) are three common types associated with this bleeding disorder. As with all recessive mutations, two copies of defective variants must be present to produce the disease. Disease presentation varies from asymptomatic to spontaneous hemorrhaging, to prolonged bleeding after injury, surgery or giving birth. Furthermore, age of onset varies with some dogs only becoming obvious “bleeders” later in life. Uncontrolled bleeding can result in death without medical intervention. A carrier, which has only one copy of a defective vWF gene, does not have the disease but has a 25% chance of producing affected pups when bred with another carrier.

Genetic tests for vWFI and vWFIII are offered by the VGL. Results from these tests help breeders determine the carrier status of breeding stock and to use the information to avoid mating two carriers together and produce affected offspring. Veterinarians can use test results to confirm clinical findings. The mutations tested have different breed origins and distributions and thus test selection needs to be breed-appropriate.

Testing is recommended for:

vWFI: Australian Cobberdog, Barbet, Bernese Mountain Dog, Brazilian Terrier, Cardigan Welsh Corgi, Coton de Tulear, Doberman Pinscher, Drentsche Patrijshond, Dutch Partridge Dog, Dutch Shepherd, French Water Dog, German Pinscher, Irish Red and White Setter, Irish Setter, Kerry Blue Terrier, Kromfohrländer, Manchester Terrier, Papillon, Pembroke Welsh Corgi, Phalene, Poodles, Doodle and Poo breeds, Stabyhoun, Toy Manchester Terrier, West Highland White Terrier

vWFIII: Deutsch Kooiker, Scottish Terrier, Shetland Sheepdog

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Allow 5-10 business days for results.

Results reported as:

N/N

Normal - no copies of the vWFI mutation

N/vWFI

Carrier - 1 copy of the vWFI mutation; dog is normal

vWFI/vWFI

Affected - 2 copies of the vWFI mutation; dog may develop vWD

 

N/N

Normal - no copies of the vWFIII* mutation

N/vWFIII

Normal - no copies of the vWFIII* mutation

vWFIII/vWFIII

Affected - 2 copies of the vWFIII* mutation; dog may develop vWD


* Report will specify mutations as vWFIII, vWFIII-B or vWFIII-C

References:

Brooks MB, Erb HN, Foureman PA, Ray K. von Willebrand disease phenotype and von Willebrand factor marker genotype in Doberman Pinschers. Am J Vet Res. 2001 Mar;62(3):364-9. [PubMed: 11277201]

Donner J, Kaukonen M, Anderson H, Moller F, Kyostila K, Sankari S, Hytonen M, Giger U, Lohi H. Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders. PLoS One. 2016 Aug 15;11(8). [PubMed: 27525650]

Kramer JW, Venta PJ, Klein SR, Cao Y, Schall WD, Yuzbasiyan-Gurkan V. 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. Vet Pathol. 2004 May; 41(3):221-8. [PubMed: 15133170]

Vos-Loohuis M, van Oost BA, Dangel C, Langbein-Detsch I, Leegwater PA. A novel VWF variant associated with type 2 von Willebrand disease in German Wirehaired Pointers and German Shorthaired Pointers. Anim Genet. 2017 Feb 3.

Rieger M, Schwarz HP, Turecek PL, Dorner F, van Mourik JA, Mannhalter C. Identification of mutations in the canine von Willebrand factor gene associated with type III von Willebrand disease. Thromb Haemost. 1998 Aug; 80(2):332-7. [PubMed: 9716162]

Venta PJ, Li J, Yuzbasiyan-Gurkan V, Brewer GJ, Schall WD. Mutation causing von Willebrand’s Disease in Scottish Terriers. J Vet Intern Med. 2000 Jan-Feb;14(1):10-9. [PubMed: 10668811]

 
Veterinary Genetics Laboratory, Tel 530-752-2211, Email VGL