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Primary Hyperchylomicronemia​
  • Description
  • Signalment
  • Clinical Features
  • Neurolocalization
  • Genetics
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Inherited hyperchylomicronemia is characterized by excessive lipemia due to a deficiency in the enzyme lipoprotein lipase (LPL). Prolonged hyperlipidemia may result in secondary pathological changes affecting target organs including the skin, liver, kidneys, eyes, and nervous system (e.g., peripheral neuropathies).

Clinical signs associated with peripheral neuropathy vary depending on the specific nerves involved and may differ between affected animals. Commonly affected nerves include the sympathetic chain, facial nerve, tibial nerve, and femoral nerve.
Age of Onset: Cats around 8 months of age are most commonly affected
Sex Predisposition: Any sex of animal can be affected
Clinical Course:
​Clinical signs worsen over time
Clinical Signs:
Posture and Appearance
Plantigrade stance

Movement
Paresis

Cranial Nerves
Horner’s Syndrome
Facial nerve paralysis

Spinal Reflexes
Hyporeflexia
Peripheral nerves
Autosomal recessive LPL (lipoprotein lipase) mutation

​For breed specific genetic testing, follow the link below:
https://www.wisdompanel.com/en-us/cat-health-conditions/lipoprotein-lipase-deficiency
To read more about this disease click below:
References
Picture
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