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Glanzmann thrombasthenia in a 17-year-old Peruvian Paso mare
Macarena G Sanz1, Tamara B Wills, Peter Christopherson
1Department of Veterinary Clinical Sciences, College of Veterinary Medicine, Washington State University, Pullman, WA, USA.
Veterinary Clinical Pathology
|February 5, 2011
Summary
Glanzmann thrombasthenia (GT), a rare inherited platelet disorder, was diagnosed in a 17-year-old mare. This case highlights GT should be considered in horses with platelet dysfunction, irrespective of age.
Area of Science:
- Veterinary Medicine
- Hematology
- Equine Science
Background:
- Glanzmann thrombasthenia (GT) is an inherited autosomal recessive platelet function disorder.
- It results from defects in the glycoprotein IIb-IIIa complex, crucial for platelet aggregation.
- Diagnosis typically occurs earlier in life, making this case unusual.
Observation:
- A 17-year-old Peruvian Paso mare presented with chronic bilateral epistaxis.
- Clinical findings included mild anemia and petechiae in the nasal mucosa.
- Platelet function tests revealed abnormal clot retraction and aggregation, despite normal von Willebrand factor levels.
Findings:
- Genetic analysis identified a homozygous 10-base-pair deletion in the gene encoding glycoprotein IIb.
- This mutation confirmed the diagnosis of Glanzmann thrombasthenia (GT).
- The mare's advanced age at diagnosis was atypical for this inherited condition.
Implications:
- This case expands the known age range for Glanzmann thrombasthenia diagnosis in horses.
- It underscores the importance of considering inherited platelet disorders in horses with unexplained bleeding, regardless of age.
- Highlights the utility of genetic testing for diagnosing platelet function disorders in equine patients.
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