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von Willebrand Disease III (Shetland Sheepdog Type)

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Test Overview:

Von Willebrand disease type III (Shetland Sheepdog Type) affects dogs and is an inherited bleeding disorder. Dogs affected with this disease often have extremely low or undetectable levels of von Willebrand coagulation factor (which is an essential protein needed for normal blood clotting). Dogs can bruise easily, have frequent nosebleeds, bleed from the mouth spontaneously or when juvenile teeth are lost, and experience prolonged bleeding after surgery or trauma, and the bleeding may be severe enough to cause death. Dogs that have one copy of the mutation (carriers) also have decreased amounts of vWf, but there is variability in the levels such that not all carriers are equally affected. Dogs that have less than 35% of the normal amount of vWf have mild to moderate signs of a bleeding disorder. Due to the variable severity of the disorder, dogs carrying this mutation may not be identified until trauma or surgery at which time the excessive bleeding becomes visible and is noted. However, most carrier dogs will not show symptoms of increased bleeding. Veterinarians performing surgery on known affected or carrier dogs should have ready access to blood for transfusions. Most carrier dogs will have a normal lifespan with this condition despite the possibility of having increased blood clotting times, however, affected dogs may develop life-threatening bleeding with an accidental injury, trauma or any surgical procedure.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

VWF

Variant Detected:

chr27:38868881: 1 bp deletion (del T)

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the VWF gene will reliably determine if a dog is a genetic carrier of von Willebrand disease III (Shetland sheepdog type).

Research Citation(s):

Raymond SL, Jones DW, Brooks MB, Dodds WJ. Clinical and laboratory features of a severe form of von Willebrand disease in Shetland sheepdogs. J Am Vet Med Assoc. 1990 Nov 15;197(10):1342-6. [PubMed: 2266049]

Associated Breed(s):

Shetland Sheepdog,

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