Von Willebrand disease type 3 (VWD3) is a hereditary disease which can be tested with a DNA test. Von Willebrand's disease (vWD) is the most common hereditary bleeding disorder in dogs as well as in humans. vWD is caused by partial or full absence of von Willebrand factor (vWF) or his unfunctionality due to structural abnormality. von Willebrand factor is multimeric plasma glycoprotein which plays a major role in haemostasis, the body response on blood vessel damage and bleeding. vWF protein is required for normal platelet adhesion at sites of vessel injury and promotes the platelet aggregation. In addition, it also stabilizes blood coagulation factor VIII (FVIII). Characteristic vWD clinical signs are: rapid occurrence of prolonged and persistent bleedings at sites of minor skin injuries and venipuncture, spontaneous mucosal bleeding from nasal cavity, intestines and gums, postoperative and posttraumatic injuries... Despite the vWF importance in blood clotting partial or complete absence of vWF from blood is not always lethal, as well as the vWD can remain unnoticed for years. Affected individuals may experience light, moderate or serious bleedings since vWD is genetically and clinically heterogeneous hereditary disease. In dogs, three types of von Willebrand's hereditary disease are occurring, and different mutations in the VWF gene are responsible for quantitative and qualitative vWF properties which are the basis for dividing vWD into vWD type I (partial absence of vWF), II (unfunctional vWF) and III (complete absence of vWF).
vWD type III is the most severe form of vWD caused by complete absence of plasma vWF and it is often lethal. Therefore, affected dogs experiencing episodes of serious bleedings require blood transfusion. vWD type III occurs in Scottish Terrier, Shetland Sheepdog and Dutch Koiker breeds. Affected (homozygote) dogs have no detectable levels of vWF, carriers (heterozygotes) have moderately reduced amount of plasma vWF, but are clinically normal.
vWD is generally diagnosed by ELISA test detecting vWF antigen and is used only when bleeding occurs. In addition, it is always not possible to determine the genetic status of the animals due to the temporal variations in the amount of plasma vWF, therefore, the ELISA test is not a reliable test. The only reliable method for determining the genotype for vWD is a genetic diagnostic test, which determines the variant alleles of VWD gene that accurately differentiate between clear, carrier and affected dogs.
Inheritance: autosomal recessive - read more
Mutation: VWF gene
Genetic test: The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. DNA testing can be done at any age.
Disease control: read more
DNA test sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.