Lipoprotein Lipase Deficiency: Symptoms, Treatment and Causes

Familial Lipoprotein Lipase Deficiency

Familial lipoprotein lipase deficiency is a rare genetic disorder, autosomal recessive disorder, where the person has grossly reduced enzyme protein lipase, which is needed for the breakdown of the fat molecules.

This disorder results in large amount of fat built up in the blood.

Causes of Lipoprotein Lipase Deficiency

The reason of this deficiency is genetic inheritance. It has been passed to the person from his parents who do not have any clinical manifestation.

Enzyme lipoprotein lipase is absent or deficient in persons suffering from this condition, without this it is not possible to breakdown fat from the digested food.

This causes accumulation of chylomicron triglyceride in the blood.

There may be a family history of lipoprotein lipase deficiency.

The condition is first observed in early childhood years.

Symptoms of Familial Lipoprotein Lipase Deficiency

• The important symptom is present since infancy and it is acute abdominal pain due to pancreatitis. Its repeated occurrence is a clinical hallmark of this lipid disorder.
• By adolescence the patient has liver and spleen enlargement, with foam cells getting infiltrated into the bone marrow.
• Eruption of small yellow papules with surrounding redness appear over buttocks and other pressure area of the body.
• The retina appears pale on opthalmoscopy examination.
• Loss of appetite.
• Jaundice
• High triglyceride in the blood.

Blood test for triglyceride and serum cholesterol.

A special test is done after giving blood thinner through the vein. In this patient there is no rise of lipoprotien lipase in the blood, where as in normal persons plasma LPL level is raised.

Treatment for Lipoprotein Lipase Deficiency

• The mainstay of the treatment is fat free diet. The total fat intake is restricted to 20 gm/ day.
• Fat soluble vitamins such as vitamin A, D, E, K should be supplemented.
• The best source of fats in these patients is medium chain fatty acids. They are not combined into chylomicron and therefore they are safe.
• The patient may require dietary counseling.
• Prognosis: the person having lipoprotein lipase deficiency should follow absolutely low fat diet for life time.

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