Lipoprotein Lipase Deficiency
What is Lipoprotein Lipase Deficiency?
Lipoprotein lipase deficiency is a rare genetic disorder that prevents your body from breaking down fats properly. Your body normally uses an enzyme called lipoprotein lipase to clear fat particles from your blood after you eat. Without working lipoprotein lipase, fats build up to dangerous levels in your bloodstream.
This condition causes extremely high triglycerides, often above 2000 mg/dL. Normal triglyceride levels are below 150 mg/dL. The condition usually appears in infancy or early childhood. Parents often notice symptoms after introducing formula or fatty foods to their baby's diet.
The fat buildup affects your blood, liver, pancreas, and other organs. Your blood can turn milky white from the excess fat. This is a lifelong condition that requires careful dietary management and regular monitoring.
Symptoms
- Milky or creamy appearance of blood
- Severe abdominal pain, often recurring
- Fatty deposits under the skin called eruptive xanthomas
- Enlarged liver and spleen
- Pancreatitis, which can be life threatening
- Loss of appetite
- Nausea and vomiting
- Irritability in infants
- Failure to gain weight in babies
Many people experience their first symptoms during infancy or early childhood. Symptoms often worsen after eating foods high in fat. Acute pancreatitis is the most dangerous complication and requires immediate medical attention.
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Causes and risk factors
Lipoprotein lipase deficiency is caused by mutations in the LPL gene. This gene provides instructions for making the lipoprotein lipase enzyme. You inherit this condition when both parents pass down a mutated copy of the gene. Parents are usually carriers with one normal and one mutated gene, showing no symptoms themselves.
Without functional lipoprotein lipase, your body cannot break down triglyceride-rich particles called chylomicrons and VLDL. These particles carry dietary fats and fats made by your liver. They accumulate in your blood to extremely high levels. Risk factors include having parents who are carriers of LPL gene mutations. The condition affects roughly 1 in 1 million people worldwide.
How it's diagnosed
Doctors diagnose lipoprotein lipase deficiency through blood tests that measure triglycerides and VLDL cholesterol. Triglyceride levels above 2000 mg/dL, especially in infants or young children, strongly suggest this condition. Your blood sample may appear milky white due to the extreme fat content. Genetic testing confirms the diagnosis by identifying mutations in the LPL gene.
Rite Aid offers triglyceride and VLDL cholesterol testing through our preventive health panel at Quest Diagnostics locations nationwide. Regular monitoring helps you and your doctor manage this condition and prevent dangerous complications like pancreatitis. Additional specialized tests may include lipoprotein lipase activity assays performed at specialty labs.
Treatment options
- Extremely low fat diet, limiting fat intake to 10 to 15 grams per day
- Medium-chain triglyceride oil as a fat substitute that does not require lipoprotein lipase
- Fat-soluble vitamin supplements including vitamins A, D, E, and K
- Omega-3 fatty acid supplements in some cases
- Strict avoidance of alcohol
- Medications like fibrates may provide modest benefit in some patients
- Gene therapy treatments currently in clinical trials
- Immediate medical care for acute pancreatitis episodes
Concerned about Lipoprotein Lipase Deficiency? Get tested at Rite Aid.
- Simple blood draw at your nearest lab
- Results in days, not weeks
- Share results with your doctor
Frequently asked questions
Eating foods high in fat triggers most symptoms. Even small amounts of dietary fat can cause triglyceride levels to spike dramatically. Alcohol consumption also worsens the condition and should be completely avoided. Symptoms often improve quickly when you follow an extremely low fat diet.
Lipoprotein lipase deficiency causes triglyceride levels above 2000 mg/dL, far higher than typical high triglycerides. Regular high triglycerides usually result from diet, diabetes, or other acquired conditions. This condition is genetic and present from birth. It requires much more restrictive dietary management than common high triglycerides.
There is currently no cure for lipoprotein lipase deficiency. Treatment focuses on managing symptoms and preventing complications through strict dietary control. Gene therapy research shows promise but is still experimental. Most people manage the condition successfully with lifelong adherence to a very low fat diet.
Most doctors recommend testing triglycerides every 3 to 6 months once your levels are stable. You may need more frequent testing when adjusting your diet or medications. Testing helps ensure your management plan is working and catches any dangerous spikes early. Regular monitoring is essential for preventing pancreatitis.
You can eat fruits, vegetables, whole grains, and lean protein sources. Choose fat-free or very low fat versions of dairy products. Medium-chain triglyceride oil provides calories without raising triglycerides. Work with a registered dietitian who specializes in metabolic disorders to create a safe meal plan.
Yes, this condition follows an autosomal recessive inheritance pattern. You must inherit one mutated LPL gene from each parent to develop the condition. Parents who are carriers have a 25% chance with each pregnancy of having an affected child. Genetic counseling can help families understand their risks.
Pancreatitis is inflammation of the pancreas, your digestive organ. Extremely high triglycerides damage pancreatic cells and trigger inflammation. Symptoms include severe abdominal pain, nausea, and vomiting. Acute pancreatitis is a medical emergency requiring immediate hospital care.
Yes, children can grow and develop normally with proper management. The key is ensuring adequate calories despite fat restriction. Medium-chain triglyceride oil and complex carbohydrates provide needed energy. Working closely with pediatric specialists helps ensure healthy growth and development.
Eruptive xanthomas are small, yellowish bumps that appear on the skin. They contain deposits of fat that have leaked from your bloodstream. These bumps often appear on the buttocks, elbows, and knees. They typically disappear when triglyceride levels are brought under control.
No, you must avoid alcohol completely with this condition. Alcohol raises triglycerides dramatically and greatly increases pancreatitis risk. Even small amounts can trigger dangerous triglyceride spikes. Complete alcohol avoidance is essential for managing this condition safely.