Apolipoprotein C-II Deficiency
What is Apolipoprotein C-II Deficiency?
Apolipoprotein C-II deficiency is a rare genetic condition that prevents your body from breaking down fats properly. Your body needs a protein called apolipoprotein C-II to activate an enzyme that clears triglycerides from your blood. Without this protein, triglycerides build up to dangerous levels.
People with this condition often have triglyceride levels above 1,000 milligrams per deciliter. Normal levels are usually below 150. This extreme buildup can happen from birth and continues throughout life without treatment.
The condition is inherited when both parents pass down a faulty gene. Because it is so rare, many people go undiagnosed until they develop symptoms. Early detection through blood testing helps prevent serious complications like pancreatitis.
Symptoms
- Abdominal pain that comes and goes
- Creamy or milky appearance of blood when drawn
- Small yellow fatty deposits under the skin, called xanthomas
- Enlarged liver or spleen
- Nausea and vomiting
- Loss of appetite
- Sudden inflammation of the pancreas, known as pancreatitis
- Fatigue and weakness
- Memory problems or confusion in severe cases
Some people have no symptoms until triglyceride levels become extremely high. Others may first notice symptoms after eating a high-fat meal. Infants and young children with this condition may develop symptoms earlier than adults.
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Causes and risk factors
Apolipoprotein C-II deficiency is caused by mutations in the APOC2 gene. This gene provides instructions for making the apolipoprotein C-II protein. Without working copies of this gene from both parents, your body cannot produce enough of this essential protein. The protein acts as a cofactor, which means it helps activate lipoprotein lipase, the enzyme responsible for breaking down triglycerides.
Because this is an autosomal recessive condition, both parents must carry one copy of the faulty gene. Parents who carry one copy usually have normal triglyceride levels. Risk factors include family history of the condition and consanguinity, which means parents who are blood relatives. There are no lifestyle factors that cause this condition, but diet can affect how severe symptoms become.
How it's diagnosed
Doctors diagnose apolipoprotein C-II deficiency through blood tests that measure triglyceride and VLDL cholesterol levels. Triglycerides above 1,000 milligrams per deciliter are a strong indicator of this condition. VLDL cholesterol, which stands for very low-density lipoprotein cholesterol, is also elevated because the body cannot break down these particles properly.
Rite Aid offers testing that includes triglycerides and VLDL cholesterol as part of our flagship panel. If your results show severe elevation, your doctor may order specialized genetic testing to confirm the diagnosis. Blood samples may also appear visibly milky or creamy, which helps doctors identify extremely high fat levels.
Treatment options
- Follow a very low-fat diet, limiting fat intake to less than 20 grams per day
- Avoid alcohol, which can raise triglyceride levels further
- Take medium-chain triglyceride supplements, which your body processes differently
- Use omega-3 fatty acid supplements under medical supervision
- Take fibrate medications like fenofibrate to help lower triglycerides
- Monitor blood sugar levels, as high triglycerides can affect glucose metabolism
- Work with a registered dietitian who specializes in lipid disorders
- Get regular blood tests to track triglyceride levels
- Seek immediate medical care if you develop severe abdominal pain
Concerned about Apolipoprotein C-II 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
Apolipoprotein C-II deficiency is caused by mutations in the APOC2 gene inherited from both parents. This gene makes a protein that helps your body break down fats in your blood. Without working copies of this gene, triglycerides build up to dangerous levels.
This condition is extremely rare, affecting fewer than 1 in 1 million people worldwide. Because it is so uncommon, many doctors may not encounter it during their entire career. Most cases are identified when someone develops severe symptoms or when routine blood work shows extremely high triglycerides.
No, apolipoprotein C-II deficiency is present from birth because it is a genetic condition. However, symptoms may not appear until childhood or even adulthood. Some people are not diagnosed until they have a severe episode of pancreatitis or undergo blood testing for another reason.
Triglyceride and VLDL cholesterol tests are the primary blood tests used to detect this condition. Triglyceride levels above 1,000 milligrams per deciliter strongly suggest the condition. Additional specialized testing can measure apolipoprotein C-II levels directly and confirm the diagnosis through genetic testing.
Normal triglyceride levels are below 150 milligrams per deciliter. Levels between 150 and 199 are considered borderline high. People with apolipoprotein C-II deficiency often have levels above 1,000, which is more than six times the normal range.
Yes, this condition can be life-threatening if left untreated. The most serious complication is acute pancreatitis, which causes severe inflammation of the pancreas. Without proper management through diet and medication, repeated episodes of pancreatitis can lead to organ damage or death.
Diet is the most important treatment, but most people also need medication. A very low-fat diet with less than 20 grams of fat per day can significantly lower triglyceride levels. However, because the underlying genetic defect cannot be cured, lifelong dietary restrictions and medical monitoring are necessary.
Yes, family members should consider genetic counseling and testing. If a sibling has the condition, you have a 25% chance of also having it. Parents and children of affected individuals are carriers, meaning they have one faulty gene but usually no symptoms.
Chronically elevated triglycerides can cause repeated episodes of pancreatitis and permanent pancreas damage. Other complications include liver enlargement, fatty deposits under the skin, and problems with memory or concentration. Keeping triglycerides as low as possible through treatment helps prevent these complications.
Yes, children can have this condition from birth since it is genetic. Some infants develop symptoms early, while others remain symptom-free until later in childhood. Regular blood testing is important for children with a family history of severe triglyceride problems.