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Cholesterol Ester Storage Disease in Two Field Spaniels With Lysosomal Acid Lipase Deficiency
Pernilla Syrjä1, Mathilda M H Ylenius2, Matilda Kråkström3
1Department of Veterinary Biosciences, Section for Veterinary Pathology and Parasitology, Faculty of Veterinary Medicine, University of Helsinki, Helsinki, Finland.
Journal of Veterinary Internal Medicine
|August 27, 2025
Summary
Cholesterol ester storage disease (CESD) in Field Spaniels is caused by lysosomal acid lipase (LAL) deficiency. This genetic disorder leads to lipid accumulation in organs, impacting canine health.
Area of Science:
- Veterinary Medicine
- Genetics
- Biochemistry
Background:
- Cholesterol ester storage disease (CESD) is a rare genetic lysosomal storage disorder.
- It stems from deficient activity of lysosomal acid lipase (LAL), an enzyme crucial for lipid metabolism.
Observation:
- This case report details two unrelated Field Spaniels diagnosed with LAL deficiency and CESD.
- Clinical findings, LAL activity, and lipidomic profiles were analyzed.
Findings:
- The study documented specific lipidomic changes in blood and liver tissues.
- Pathological findings correlated with LAL deficiency and CESD were observed in the affected dogs.
Implications:
- Understanding LAL deficiency in Field Spaniels advances knowledge of CESD in veterinary medicine.
- This research may inform diagnostic approaches and potential therapeutic strategies for lysosomal storage disorders in canines.
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