Hyperlipoproteinemia / LPL deficiency (LPL-related) - Cat

Hyperlipoproteinemia in cats

This DNA test analyses the LPL variant c.1234G>A, which causes hyperlipoproteinemia in cats. The condition is also known as hypertriglyceridemia, chylomicronemia, familial hyperchylomicronemia and lipoprotein lipase deficiency. LPL encodes lipoprotein lipase, an enzyme needed for normal breakdown of triglyceride-rich lipoproteins.

When LPL function is severely reduced, fat particles can accumulate in the blood. Affected cats may develop problems early in life, including reduced growth, low body weight, lipid-rich or milky blood samples, fatty skin nodules, lipemia retinalis and susceptibility to pancreatitis.

Practical value of this test

• Determines whether the cat is clear, a carrier or genetically affected for the tested LPL variant.
• Helps breeders avoid carrier combinations and prevent affected kittens.
• Provides clear genetic information in lines where chylomicronemia, hypertriglyceridemia or LPL deficiency is relevant.

The trait follows an autosomal recessive mode of inheritance. Two copies of the variant cause a genetically affected status; carriers are usually not affected themselves but can pass the variant on.