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Bernard-Soulier Syndrome (BSS)

Breeds

Relevance Rating: There is moderate evidence or research available in this breed

General

Disease Name
Bernard-Soulier Syndrome (BSS)
Mutation
the mutation will be presented in a future publication
Test Type
Genetic Disease/Disorder
Details
Bernard-Soulier syndrome (BSS): BSS is an autosomic recessive hereditary bleeding diatesis. The disease is currently considered rare, but may be frequently overlooked or misdiagnosed. Clinical signs include a lower than normal platelet count, platelets larger than average, and have an inherent defect which prevents plug formation leading to excessive bleeding. Owners have reported mucosal bleeding with unresponsive nose bleeding, melena, and blood in the urine. BSS may be life-threatening in certain situations, such as whelping or in cases of traumatic events or surgery. Laboratory exams may reveal a mild thrombocytopenia with ?giant platelets? (increased Mean Platelet Volume, MPV). BSS may easily be misdiagnosed with other platelet disorders, such as idiopathic or secondary immuno-mediated thrombocytopenia(IMT). (Edited from Genefast) This test may be useful both for diagnosis of BSS, and as a preventative measure to be used in breeding plans.
Published
TBC
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