Lipoprotein Lipase Deficiency: Lack of Lipase Enzyme Protein

Lipoprotein lipase deficiency is a rare childhood genetic disorder. The condition is observed in early childhood.  The most important aspect of this deficiency is its detection. Many times physicians misdiagnose the condition, but a detailed history and blood examination is very useful tool for its recognition.

In lipoprotein lipase deficiency, there is lack of an enzyme protein called lipase, which is used to breakdown the fats from the digested food.

Its deficiency causes excessive accumulation of free fat in the blood in the form of triglyceride and cholesterol.

The risk increases in children whose parents also suffer from this deficiency.

Lipoprotein Lipase Function

As already mentioned, the enzyme protein breaks down the circulating chylmicron and low density lipoprotein (LDL) into fatty acids and 2 monoacylglycerol for the utilization of the tissues. Due to its deficiency, the fat metabolism is hampered.

The abnormal function of LPL can give rise to many conditions in adulthood, like arthrosclerosis, obesity, heart disease, stroke, insulin resistance diabetes and Alzheimer’s disease etc.

Symptoms of Lipoprotein Lipase Deficiency:

  • Recurrent pancreatitis attacks in the child.
  • Pain in the abdomen.
  • Loss of appetite.
  • Malabsorption.
  • Nausea and vomiting.
  • Xanthomas on lower eye lids, buttocks etc.
  • Retinal changes on opthalmoscopy.
  • Enlarged liver and spleen.
  • Yellow discoloration of conjunctiva of eyes.
  • Very high triglyceride level in blood.

Also see Ornithine Transcarbamylase Deficiency

    Treatment

    After the diagnosis is confirmed, the patient is advised to eat a fat free diet. The total quantity of fats in a day should not exceed 20gm/ day.

    Medium chain fatty acids are the best fats for these patients; they are not transformed into chylmicron. At times the child may require counseling.

    Person suffering from lipoprotein lipase deficiency has to follow low fat food for the lifetime, if he wants to remain free from pancreatitis, heart and other major diseases.

    Also see Essential Enzyme Shortage Treatment