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Familial lipoprotein lipase deficiency
Type I hyperlipoproteinemia; Familial chylomicronemia; Familial LPL deficiency
Familial lipoprotein lipase deficiency is a group of rare genetic disorders in which a person lacks a protein needed to break down fat molecules. The disorder causes a large amount of fat to build up in the blood.
Causes
Familial lipoprotein lipase deficiency is caused by a defective gene that is passed down through families.
People with this condition lack an enzyme called lipoprotein lipase. Without this enzyme, the body cannot break down fat from digested food. Fat particles called chylomicrons build up in the blood.
Enzyme
Enzymes are complex proteins that cause a specific chemical change in all parts of the body. For example, they can help break down the foods we eat ...
Risk factors include a family history of lipoprotein lipase deficiency.
The condition is usually first seen during infancy or childhood.
Symptoms
Symptoms may include any of the following:
- Abdominal pain (may appear as colic in infancy)
- Loss of appetite
- Nausea
- Pain in the muscles and bones (musculoskeletal pain)
- Vomiting
Exams and Tests
Signs of this condition include:
- Enlarged liver and spleen
- Failure to thrive in infancy
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Fatty deposits in the skin (
xanthomas
)
xanthomas
Xanthoma is a skin condition in which certain fats build up under the surface of the skin.
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High
triglyceride
levels in the blood
Triglyceride
The triglyceride level is a blood test to measure the amount of triglycerides in your blood. Triglycerides are a type of fat. Your body makes some t...
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Pale
retinas
and white-colored blood vessels in the retinas
Retinas
The retina is the light-sensitive layer of tissue at the back of the eyeball. Images that come through the eye's lens are focused on the retina. Th...
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Pancreatitis
that keeps returning
Pancreatitis
Pancreatitis is swelling of the pancreas. Chronic pancreatitis is present when this problem does not heal or improve, gets worse over time, and lead...
ImageRead Article Now Book Mark Article - Yellowing of the eyes and skin (jaundice)
Blood tests will be done to check cholesterol and triglyceride levels. Sometimes, a special blood test is done after you are given blood thinners through a vein. This test looks for lipoprotein lipase activity in your blood.
Lipoprotein lipase
Lipase is a protein (enzyme) released by the pancreas into the small intestine. It helps the body absorb fat. This test is used to measure the amou...
Genetic tests may be done.
Treatment
Treatment aims to control the symptoms and blood triglyceride levels with a very low-fat diet. You should eat no more than 20 grams of fat per day to prevent the symptoms from coming back.
Twenty grams of fat is equal to one of the following:
- 2 8-ounce (240 milliliters) glasses of whole milk
- 4 teaspoons (20 grams) of margarine
- 4 ounces (112 grams) serving of meat
The average American diet has a fat content of up to 45% of total calories. Fat-soluble vitamins A, D, E, and K and mineral supplements are recommended for people who eat a very low-fat diet. You may want to discuss your diet needs with a registered dietitian.
Pancreatitis that is related to lipoprotein lipase deficiency responds to treatments for that disorder.
Outlook (Prognosis)
People with this condition who follow a very low-fat diet can live into adulthood.
Possible Complications
Pancreatitis and recurrent episodes of abdominal pain may develop.
Xanthomas are not usually painful unless they are rubbed a lot.
When to Contact a Medical Professional
Call your health care provider for screening if someone in your family has lipoprotein lipase deficiency. Genetic counseling is recommended for anyone with a family history of this disease.
Prevention
There is no known prevention for this rare, inherited disorder. Awareness of risks may allow early detection. Following a very low-fat diet can improve the symptoms of this disease.
References
Ferri FF. Primary hyperlipoproteinemia. In: Ferri FF, ed. Ferri's Clinical Advisor 2015 . Philadelphia: PA Elsevier Mosby; 2015:611-612.
Semenkovich CF. Disorders of lipid metabolism. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine . 24th ed. Philadelphia, PA: Elsevier Saunders; 2012:chap 213.
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Coronary artery disease - illustration
The coronary arteries supply blood to the heart muscle itself. Blood supply through these arteries is critical for the heart. Coronary artery disease usually results from the build-up of fatty material and plaque, a condition called atherosclerosis. As the coronary arteries narrow, the flow of blood to the heart can slow or stop, causing chest pain (stable angina), shortness of breath, heart attack, or other symptoms.
Coronary artery disease
illustration
-
Coronary artery disease - illustration
The coronary arteries supply blood to the heart muscle itself. Blood supply through these arteries is critical for the heart. Coronary artery disease usually results from the build-up of fatty material and plaque, a condition called atherosclerosis. As the coronary arteries narrow, the flow of blood to the heart can slow or stop, causing chest pain (stable angina), shortness of breath, heart attack, or other symptoms.
Coronary artery disease
illustration
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Cholesterol
(In-Depth)
Review Date: 4/30/2015
Reviewed By: Laura J. Martin, MD, MPH, ABIM Board Certified in Internal Medicine and Hospice and Palliative Medicine, Atlanta, GA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
