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Familial lipoprotein lipase deficiency
Alternative namesType I hyperlipoproteinemia; Familial chylomicronemia
DefinitionFamilial lipoprotein lipase deficiency is a group of rare genetic disorders characterized by deficient activity of an enzyme (lipoprotein lipase) that breaks down fat molecules, causing the accumulation of large quantities of fat (lipoproteins) in the blood.
Causes, incidence, and risk factorsA defective gene is usually the cause of this disorder, which is inherited in an autosomal recessive manner. Blood tests show a high level of chylomicrons, a lipoprotein that carries fats from digested food into the blood stream. The chylomicrons are not broken down properly because of the deficiency of the lipoprotein lipase enzyme. This results in a build up of fat-laden chylomicrons in blood. Skin lesions (xanthomas) form as a result of deposits of these chylomicrons in the skin. There is inflammation of the pancreas and resulting abdominal pain.
Risk factors are a family history of lipoprotein lipase deficiency, very high triglycerides in the blood, multiple unexplained episodes of pancreatitis , and failure to thrive in infancy. The incidence is 1 out of 1,000,000 people. The disease usually shows up in infancy or early childhood.
Signs and testsA physical examination may reveal xanthomas, an enlarged liver, an enlarged spleen, and jaundice. An eye examination reveals pale retinas and whitish retinal vessels.
Tests or observations that may indicate this disorder is present include:
Treatment is intended to control the symptoms and blood triglyceride levels with a very low fat diet. Fat intake usually must be less than 20 grams per day to keep the symptoms from coming back.
Twenty grams of fat is equivalent to one of the following:
The average American diet has an average fat content of up to 45% of total calories. Fat-soluble Vitamins A, D, E, and K and mineral supplements are recommended. Dietary counseling can be helpful for patients trying to stick to a strict diet and maintain adequate calorie and nutrient intake. Pancreatitis responds to conventional treatments for that disorder.
Expectations (prognosis)By following a very low-fat diet, a person may live into adulthood.
ComplicationsPancreatitis and recurrent episodes of abdominal pain may develop. Numerous xanthomas typically occur in the skin, but are not usually painful unless at the site of recurrent rubbing. Surprisingly, there is no increased risk of atherosclerosis or heart attacks.
Calling your health care providerCall your health care provider for screening if lipoprotein lipase deficiency has been diagnosed in a family member or if you have extremely elevated triglyceride levels. Genetic counseling is recommended for anyone with a family history of this disease.
PreventionThere is no known prevention for this rare inherited disorder. Awareness of risks may allow early detection. Prompt institution of a very low fat diet can dramatically improve the symptoms of this disease.
Update Date: 7/25/2003Douglas R. Stewart, M. D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
Last updated: Tue, 06 Jan 2009 00:20:03 GMT