Severe, recessive von Willebrand’s disease in German Wirehaired Pointers

Marjory Brooks From the Comparative Hematology Section, Diagnostic Laboratory, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853 (Brooks, Catalfamo), and the Wadsworth Center for Laboratories and Research, New York State Department of Health, Albany, NY 12201 (Raymond).

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Sharon Raymond From the Comparative Hematology Section, Diagnostic Laboratory, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853 (Brooks, Catalfamo), and the Wadsworth Center for Laboratories and Research, New York State Department of Health, Albany, NY 12201 (Raymond).

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James Catalfamo From the Comparative Hematology Section, Diagnostic Laboratory, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853 (Brooks, Catalfamo), and the Wadsworth Center for Laboratories and Research, New York State Department of Health, Albany, NY 12201 (Raymond).

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Objective

To characterize the biochemical and genetic basis of a clinically severe form of von Willebrand’s disease (VWD) in German Wirehaired Pointers.

Design

Case series.

Sample Population

Plasma samples from 335 German Wirehaired Pointers (8 clinically affected).

Procedure

Plasma samples were evaluated, using an ELISA, to determine von Willebrand factor (WVF) antigen concentration. Additional studies performed on samples from clinically affected dogs included coagulation screening tests, factor VIlI coagulant activity assays, and immunoelectrophoresis to determine VWF multimeric composition.

Results

Mucosal bleeding and bleeding at sites of cutaneous injury were observed in affected dogs by 6 months old. Plasma vWF antigen concentration was markedly reduced, and there was a lack of high molecular weight vWF multimers; findings compatible with type-ll vWD. Inheritance and expression pattern of vWD in this breed was most compatible with that of an autosomal recessive trait.

Clinical Implications

Von Willebrand's disease should be included in the differential diagnoses of bleeding diatheses in German Wirehaired Pointers, with definitive diagnosis confirmed on the basis of canine-specific vWF assays. (J Am Vet Med Assoc 1996; 209:926-929)

Objective

To characterize the biochemical and genetic basis of a clinically severe form of von Willebrand’s disease (VWD) in German Wirehaired Pointers.

Design

Case series.

Sample Population

Plasma samples from 335 German Wirehaired Pointers (8 clinically affected).

Procedure

Plasma samples were evaluated, using an ELISA, to determine von Willebrand factor (WVF) antigen concentration. Additional studies performed on samples from clinically affected dogs included coagulation screening tests, factor VIlI coagulant activity assays, and immunoelectrophoresis to determine VWF multimeric composition.

Results

Mucosal bleeding and bleeding at sites of cutaneous injury were observed in affected dogs by 6 months old. Plasma vWF antigen concentration was markedly reduced, and there was a lack of high molecular weight vWF multimers; findings compatible with type-ll vWD. Inheritance and expression pattern of vWD in this breed was most compatible with that of an autosomal recessive trait.

Clinical Implications

Von Willebrand's disease should be included in the differential diagnoses of bleeding diatheses in German Wirehaired Pointers, with definitive diagnosis confirmed on the basis of canine-specific vWF assays. (J Am Vet Med Assoc 1996; 209:926-929)

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