Peer-reviewed veterinary case report
Somali cat with anemia and bilirubin gallstones from enzyme deficiency
By van Geffen, C et al.·Published in The Journal of small animal practice·2008·Department of Medicine and Clinical Biology of Small Animals·View original on PubMed →
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Original publication title: Bilirubin cholelithiasis and haemosiderosis in an anaemic pyruvate kinase-deficient Somali cat.
- Species:
- cat
Plain-English summary
A Somali cat was brought in for repeated vomiting, lack of appetite, and yellowing of the skin and eyes. The vet found that the cat had a type of anemia caused by a genetic condition called pyruvate kinase deficiency, which affects red blood cells. Tests showed high liver enzyme levels and the presence of gallstones made of bilirubin, likely due to the ongoing breakdown of red blood cells. Treatment focused on managing the anemia and liver issues, which can be complex in cases like this.
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Abstract
A Somali cat was presented with recurrent anorexia, lethargy, vomiting and icterus. A macrocytic-hypochromic, regenerative haemolytic anaemia was identified and hereditary pyruvate kinase deficiency was confirmed by means of breed-specific DNA mutation analysis. The case was complicated by the presence of markedly elevated serum liver enzyme activities, hyperbilirubinaemia, coagulopathy and ultrasonographic evidence of gall bladder choleliths and extrahepatic bile duct obstruction. The choleliths consisted of 100 per cent bilirubin, likely because of chronic haemolysis and haeme degradation. In conclusion, haemosiderosis and bilirubin cholelithiasis can be a consequence of chronic haemolysis in pyruvate kinase-deficient cats, as seen in human beings with a variety of chronic haemolytic disorders.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/18684151/