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Chylomicronemia - Lipoprotein Lipase Deficiency (Domestic Type)

Description

Genetic basis of Chylomicronemia - in domestic cats is an autosomal recessive inherited disorder caused by a mutation in the lipoprotein lipase (LPL) gene. This gene encodes the enzyme lipoprotein lipase, which is essential for breaking down triglycerides in lipoproteins into usable fatty acids for energy metabolism. The identified mutation involves a nucleotide substitution leading to an amino acid change (arginine for glycine at residue 412) in exon 8 of the LPL gene. Cats must inherit two copies of the mutated gene, one from each parent, to be affected. Heterozygous cats are carriers and do not typically show clinical signs but can pass the mutation on. DNA testing is available to identify affected cats and carriers.

Pathophysiology - The lipoprotein lipase enzyme deficiency leads to impaired hydrolysis of triglyceride-rich lipoproteins, causing accumulation of chylomicrons (fat particles) in the blood—this is called chylomicronemia or hyperlipoproteinemia. This results in markedly elevated blood triglyceride levels even on low-fat diets. Affected cats have impaired fatty acid uptake and energy metabolism due to the enzyme deficiency. The disorder causes visible lipid droplets (lipemia) in plasma and leads to clinical signs related to fat accumulation in blood and tissues.

Complications - Affected cats present with: Reduced body mass and growth rates, especially noted in kittens. Increased stillbirth rates in affected queens (breeding females). Lethargy, anorexia (poor appetite), and failure to thrive. Development of xanthomata—lipid granulomas in skin and internal organs due to fat accumulation. Occasionally neurological signs such as facial paralysis, Horner's syndrome, or limb paralysis may be seen. Lipemia retinalis (milky appearance of retinal blood vessels) may occur. Anemia and splenomegaly (enlarged spleen) are less commonly observed. The disease is chronic, and affected cats require lifelong management. 

Why This Matters to Breeders and Vets - Breeders should use genetic testing for the LPL mutation to avoid mating two carriers, which gives a 25% chance per kitten to be affected. Carrier-to-clear matings are safe but require follow-up testing of offspring for breeding decisions. Responsible breeding reduces prevalence of this serious metabolic disorder. Veterinarians must recognize clinical signs and biochemical abnormalities (marked hypertriglyceridemia and lipemia) and confirm diagnosis by genetic testing when available. Management focuses on dietary fat restriction and supportive care. Treating complications such as neuropathies and xanthomas is important. Awareness and early diagnosis are essential to improve outcomes and inform breeding advice. This disorder is similar to human LPL deficiency and serves as a valuable model for the disease.

Summary - Chylomicronemia, Lipoprotein Lipase Deficiency in domestic cats is a rare autosomal recessive metabolic disorder caused by mutations in the LPL gene leading to deficient lipoprotein lipase enzyme activity. This causes accumulation of triglyceride-rich lipoproteins in the blood, resulting in clinical signs including lethargy, poor growth, xanthomata, and neurological symptoms in severe cases. Diagnosis is supported by genetic testing identifying the specific LPL mutation. Management is primarily dietary with fat restriction and supportive treatment. Breeding programs using genetic testing can prevent disease spread.
 

Recommended Breeding

Diseases

Chylomicronemia - Lipoprotein Lipase Deficiency (Domestic Type)

Associated Breed(s):

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Labels:

Pathogenic (P)

A healthcare provider can use molecular testing information in clinical decision‑making for breeding programs and/or screening.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Gene:

LPL on Chromosome B1

Variant Detected:

Base Substitution G>A

Mode of Inheritance:

Autosomal Recessive

OMIA Reference:

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