Abstract
Erythrocyte pyruvate kinase (PK) deficiency is described for the first time in three apparently unrelated West Highland white terriers (WHWT) from Ireland and the UK. All three dogs were diagnosed with markedly regenerative but persistent anaemia and had been treated for presumed immune-mediated haemolytic anaemia (IMHA) before hereditary erythrocyte PK-deficiency was confirmed by breed-specific DNA mutation analysis. This hereditary erythroenzymopathy causes haemolytic anaemia and affects several canine breeds with varying degrees of severity. Although eventually causing osteosclerosis, haemosiderosis and death, PK-deficient dogs can adapt to their anaemia for many years.PK-deficiency should be considered in anaemic WHWTs worldwide particularly in dogs with haemolytic anaemia where evidence for an immune-mediated, infectious or toxic underlying cause is lacking.
Highlights
Hereditary erythroenzymopathies are rare in the general dog population but they may be more common in certain breeds
Case 3 A 2-year-old male entire West Highland white terriers (WHWT) was presented to the Queen Mother Hospital, Royal Veterinary College, UK for further evaluation of a persistent regenerative anaemia
Erythrocyte pyruvate kinase (PK) mutation analysis Because of age, breed, negative Coombs’ test results, maintenance of normal demeanour despite persistent anaemia and the absence of response to standard treatment for immune-mediated haemolytic anaemia (IMHA), PK- deficiency was suspected in each case
Summary
Hereditary erythroenzymopathies are rare in the general dog population but they may be more common in certain breeds. Case 3 A 2-year-old male entire WHWT was presented to the Queen Mother Hospital, Royal Veterinary College, UK for further evaluation of a persistent regenerative anaemia. Thoracic radiographs revealed mild right-sided cardiomegaly and a diffuse interstitial lung pattern. Erythrocyte PK mutation analysis Because of age, breed, negative Coombs’ test results, maintenance of normal demeanour despite persistent anaemia and the absence of response to standard treatment for IMHA, PK- deficiency was suspected in each case. Prednisolone was discontinued in case 1 and 2 when PK-deficiency was confirmed Both dogs have remained bright and the owners have reported that quality of life was acceptable with minimal exercise intolerance to date (1 and 3 years later for case 1 and 2, respectively).
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