Page 584 - Problem-Based Feline Medicine

576 PART 8 CAT WITH ABNORMAL LABORATORY DATA

PCR mismatch analysis can detect normal cats, homozy- Diagnosis
gotes and heterozygotes for this genetic defect.
History of vomiting and diarrhea with corneal
clouding.
Treatment
Plasma cholesterol values are in the reference ranges.
A low-fat diet either homemade or commercial will
Plasma triglyceride and low-density lipoprotein are
reduce blood lipid values and clinical signs will regress
increased.
after 4–12 weeks.
Plasma and serum are grossly normal.
Siblings and parents should be tested, and affected
homozygotes and heterozygotes neutered and not bred. Heparin response test indicates normal lipoprotein
lipase activity.
The prevalence of this mutation in cat populations is
very low. Cytoplasmic vacuolation containing cholesterol esters
is present in a proportion of neutrophils (16%), lym-
phocytes (56%), and monocytes (60%), stained by
CHOLESTEROL ESTER STORAGE DISEASE
Wright-Giemsa.
Classical signs Acid lipase activity in cultivated fibroblasts and hepa-
tocytes is markedly decreased compared with controls.
● Siamese cats.
● Corneal clouding.
● Hepatomegaly. Differential diagnosis
● Intermittent vomiting and diarrhea.
Other inherited metabolic and lysosomal storage diseases.

Pathogenesis Treatment
Lysosomal lipase (cholesterol ester hydrolase)
In theory, a reduced-fat diet and treatment with one of
hydrolyzes cholesterol esters in various lipoproteins as
the HMG CoA-reductase inhibitors (statins) should
they are removed from plasma and enter the cellular
reduce cholesterol synthesis, and up-regulate LDL-
compartment.
receptor activity thus reducing plasma cholesterol,
Deficiency of this enzyme results in cholesterol ester triglyceride and the LDL cholesterol concentrations.
accumulation within lysosomes which may result in This treatment was not attempted in the reported cases.
organ failure and death.
The condition is transmitted as an autosomal recessive NEPHROTIC SYNDROME
mode of inheritance in the Siamese.
Classical signs
Homozygous recessive cats are more severely affected
than the heterozygotes. ● Proteinuria.
● Hypoalbuminemia.
● Peripheral edema.
Clinical signs ● Ascites.
● ± polydipsia, polyuria.
Siamese breed.
Onset of signs before 1 year of age.
Pathogenesis
Corneal clouding.
Rare disease in cats.
Intermittent vomiting and diarrhea.
Hypercholesterolemia is a common sequel to protein-
Hepatomegaly. losing glomerulopathy.