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Lipoprotein Lipase Deficiency

Lipoprotein Lipase Deficiency is a metabolic disorder that causes decreased body mass and reduced growth rates in affected kittens and can cause stillbirths in affected queens.

Found in

1 in 1,300 cats

in our testing

Key Signs

Reduced growth, Reduced body mass, Increased stillbirth rate, Cholesterol deposits in the skin, Lipemia retinalis, Peripheral neuropathies

Age of Onset

At birth

Present at birth

Inheritance

Autosomal Recessive

For autosomal recessive disorders, cats with two copies of the variant are at risk of developing the condition. Cats with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their kittens if bred.

Likelihood of the Condition

High likelihood

At risk cats are highly likely to show signs of this disease in their lifetime.

What to Do

Here’s how to care for a cat with LLD

Partner with your veterinarian to make a plan regarding your cat’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.

For Veterinarians

Here’s what a vet needs to know about LLD

Lipoprotein Lipase Deficiency (also called chylomicronemia) results from a deficiency of the lipoprotein lipase enzyme. Lipoprotein lipase is crucial in lipoprotein and lipid metabolism. Deficiency of this enzyme leads to impaired uptake and use of fatty acids for energy metabolism. Clinical signs of the disease can be observed in some cats at birth and are, otherwise, often noticeable before one year of age. Affected kittens may show reduced birth weight and slow growth rates, while adults have reduced body mass and body fat. Affected queens may also have an increased number of stillborn kittens. Additional clinical signs include lethargy, anorexia, and xanthomata (lipid granulomas in the skin and internal organs). More severely affected individuals may show various neuropathies (such as facial paralysis, Horner's syndrome, radial and/or tibial nerve paralysis) and lipemia retinalis. Less commonly seen clinical signs include anemia and splenomegaly. Most affected individuals will have a fasting hyperchylomicronemia. Lipoprotein analysis of affected cats will show elevated triglyceride levels, even when fed a low fat diet; a finding that can be shared with some carriers of this mutation. Total cholesterol and HDL-cholesterol ratio is also elevated in affected cats.

Transitioning to a low-fat, high-fiber diet is considered the cornerstone of therapy, although not all individuals respond. Additional therapies are limited to supportive care (such as medication for pain when warranted) and treating any secondary disorders that may arise.

For Breeders

Planning to breed a cat with this genetic variant?

There are many responsibilities to consider when breeding cats. Regardless of test results it is important that your cat is in good general health and that you are in a position to care for the kittens if new responsible owners are not found. For first time or novice breeders, advice can be found at most cat registry websites.

This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to be shown. A carrier cat with one copy of the LLD mutation can be safely bred with a clear cat with no copies of the LLD mutation. About half of the kittens will have one copy (carriers) and half will have no copies of the LLD mutation. Kittens in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected kittens. Please note: It is possible that disease signs similar to the ones caused by the LLD mutation could develop due to a different genetic or clinical cause.

Technical Details

Gene LPL
Variant G>A
Chromosome B1
Coordinate 38,078,551

All coordinates reference FelCat9.0

References & Credit

Credit to our scientific colleagues:

Ginzinger, D. G., Lewis, M. E. S., Ma, Y., Jones, B. R., Liu, G., Jones, S. D., & Hayden, M. R. (1996). Lipoprotein Lipase Deficiency in the Cat A Mutation in the Lipoprotein Lipase Gene Is the Molecular Basis of Chylomicronemia in a Colony of Domestic Cats lipoprotein lipase • animal model • chylomicronemia • cat • molecular genetics. In J. Clin. Invest (Vol. 97, Issue 5). View the article