Peer-reviewed veterinary case report
Whippets with anemia, muscle cramps, and heart disease from enzyme
By Gerber, Karen et al.·Published in Veterinary clinical pathology·2009·Axiom Veterinary Laboratory, United Kingdom·View original on PubMed →
PetCaseFinder translated the abstract of this peer-reviewed paper into plain English so pet owners can read it. We do not publish original research — every detail traces back to the citation above. How we work →
Original publication title: Hemolysis, myopathy, and cardiac disease associated with hereditary phosphofructokinase deficiency in two Whippets.
- Species:
- dog
Plain-English summary
Two male Whippet littermates, both 1 year old, were brought to the vet due to symptoms like pale gums, fast heart rate, heart murmur, dark yellow feces, tiredness, and muscle cramps after exercise. Blood tests showed anemia and signs of muscle and heart issues. The dogs were found to have a genetic condition called phosphofructokinase deficiency, which affects their red blood cells and can lead to heart disease. Treatment focused on managing their symptoms, and while the condition is serious, understanding it better can help improve their care and quality of life.
People also search for: Whippet heart disease symptoms · phosphofructokinase deficiency in dogs · dog muscle cramps after exercise
Abstract
Two male castrated Whippet littermates were presented at 1 year of age for pallor, tachycardia, systolic heart murmur, dark yellow to orange feces, intermittent lethargy, pigmenturia, and muscle shivering or cramping after exercise. Persistent macrocytic hypochromic anemia with marked reticulocytosis and metarubricytosis was found when CBC results were compared with reference values for Whippets. Increased serum creatine kinase activity and hyperkalemia also were sometimes present over the 4-year period of evaluation. Progressively increasing serum concentrations of N-terminal prohormone brain natriuretic peptide suggested cardiac disease. Erythrocytes from the whippets were less osmotically fragile but more alkaline fragile than those from control dogs. Erythrocyte phosphofructokinase (PFK) activities and 2,3-diphosphoglycerate concentrations were decreased. Restriction enzyme-based DNA test screening and DNA sequencing revealed the same mutation in the muscle-PFK gene of the Whippets as seen in English Springer Spaniel dogs with PFK deficiency. This is the first report of PFK deficiency in Whippet dogs. In addition to causing hemolysis and exertional myopathy, heart disease may be a prominent clinical component of PFK deficiency in this breed and has not been previously recognized in PFK-deficient English Springer Spaniels.
Find similar cases for your pet
PetCaseFinder finds other peer-reviewed reports of pets with the same symptoms, plus a plain-English summary of what was tried across them.
Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/19228357/