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von Willebrand's Disease Type II (German Wirehaired Pointer)

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Description:

Von Willebrand’s disease is the most common inherited bleeding disorder in dogs and occurs when there is a lack of functional von Willebrand factor.  Von Willebrand factor is needed for the normal adhesion of platelets and for normal blood clotting to occur.  There are 3 types of von Willebrand’s disease, and the German shorthaired pointer is most commonly affected by type II von Willebrand’s disease. 

This is a recessive disorder and is a fairly rare and severe form of von Willebrand’s disease.  It occurs when there is structurally abnormal von Willebrand factor in the blood of affected animals.  Because the von Willebrand factor is structurally abnormal, it will not function as it is supposed to in the process of blood clotting.  This type of von Willebrand’s disease leads to severe bleeding disorders and episodes of bleeding.  

Test Overview:

Von Willebrand’s disease is the most common inherited bleeding disorder in dogs and occurs when there is a lack of functional von Willebrand factor. Von Willebrand factor is needed for the normal adhesion of platelets and for normal blood clotting to occur. There are 3 types of von Willebrand’s disease, and type II disease occurs when there is structurally abnormal von Willebrand factor in the blood of affected animals. This is a recessive disorder and is a fairly rare and severe form of von Willebrand’s disease. Because the von Willebrand factor is structurally abnormal, it will not function as it is supposed to in the process of blood clotting. This type of von Willebrand’s disease leads to severe bleeding disorders and episodes of bleeding. Diagnosis may be suspected in a dog that has a bleeding problem but a normal PT and APTT, and can be confirmed by DNA testing for the mutation that causes the disease. Treatment may involve supportive care as an inpatient in hospital, as well as blood and/or plasma transfusions to provide functioning clotting factors. Care must be taken that affected dogs do not play roughly, suffer trauma from falls or jumping from heights, and that veterinarians are always aware of their condition. However severe episodes of bleeding that can be life-threatening may occur regardless.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

VWF

Variant Detected:

missense variant c.1657T>G; p.Trp553Gly

Severity:

It is a trait and so is tested based on preference, not usually for health concerns.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Vos-Loohuis, M., van Oost, B.A., Dangel, C., Langbein-Detsch, I., Leegwater, P.A. : A novel VWF variant associated with type 2 von Willebrand disease in German Wirehaired Pointers and German Shorthaired Pointers. Anim Genet 48:493-496, 2017. Pubmed reference: 28696025. DOI: 10.1111/age.12544.

Associated Breed(s):

German Shorthaired Pointer, German Wirehaired Pointer, Mixed Breed,
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