Familial lipoprotein lipase 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.
Type I hyperlipoproteinemia; Familial chylomicronemia; Familial LPL deficiency
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.
Risk factors include a family history of lipoprotein lipase deficiency.
The condition is usually first seen during infancy or childhood.
Symptoms may include any of the following:
- Abdominal pain (may appear as colic in infants)
- Loss of appetite
- Nausea, vomiting
- Pain in the muscles and bones (musculoskeletal pain)
- Enlarged liver and spleen
- Failure to thrive in infants
- Fatty deposits in the skin (xanthomas)
- High triglyceride levels in the blood
- Pale retinas and white-colored blood vessels in the retinas
- Chronic inflammation of the pancreas
- Yellowing of the eyes and skin (jaundice)
Exams and Tests
The health care provider will perform a physical examination and ask about the symptoms.
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.
Genetic tests may be done.
Treatment aims to control the symptoms and blood triglyceride levels with a very low-fat diet. Your provider will likely recommend that 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:
- Two 8-ounce (240 milliliters) glasses of whole milk
- 4 teaspoons (9.5 grams) of margarine
- 4 ounces (113 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 your provider and a registered dietitian.
Pancreatitis that is related to lipoprotein lipase deficiency responds to treatments for that disorder.
These resources can provide more information on familial lipoprotein lipase deficiency:
- National Organization for Rare Disorders -- rarediseases.org/rare-diseases/familial-lipoprotein-lipase-deficiency
- NIH Genetics Home Reference -- ghr.nlm.nih.gov/condition/familial-lipoprotein-lipase-deficiency
People with this condition who follow a very low-fat diet can live into adulthood.
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 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.
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.
Hegele RA. Lipoprotein and lipid metabolism. In: Rimoin D, Korf B, eds. Emery and Rimoin's Principles and Practice of Medical Genetics. 6th ed. Philadelphia, PA: Elsevier; 2013:chap 96.
National Organization for Rare Disorders. The Physician's Guide to Lipoprotein Lipase Deficiency (LPLD). 2015. rarediseases.org/physician-guide/lipoprotein-lipase-deficiency-lpld/. Accessed June 6, 2017.
Semenkovich CF, Goldberg AC, Goldberg IJ. Disorders of lipid metabolism. In: Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, eds. Williams Textbook of Endocrinology. 13th ed. Philadelphia, PA: Elsevier; 2016:chap 37.
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, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.