Familial Hypertriglyceridemia
What is Familial Hypertriglyceridemia?
Familial hypertriglyceridemia is an inherited condition that causes your body to produce too much of a certain type of fat called triglycerides. These fats travel through your bloodstream in particles called VLDL cholesterol. VLDL stands for very low density lipoprotein. When you have this condition, your liver makes more VLDL than it should.
This genetic disorder follows an autosomal dominant pattern. That means if one parent has the condition, each child has a 50% chance of inheriting it. Many people with familial hypertriglyceridemia have triglyceride levels between 200 and 500 mg/dL. Normal levels are usually below 150 mg/dL.
High triglycerides can increase your risk of heart disease and pancreatitis. Pancreatitis is a painful inflammation of the pancreas. The good news is that blood tests can detect this condition early. You can then work with your doctor to manage your levels through lifestyle changes and sometimes medication.
Symptoms
- Often no noticeable symptoms in the early stages
- Fatty deposits under the skin called xanthomas, especially on elbows, knees, hands, or feet
- Whitish ring around the colored part of the eye called corneal arcus
- Creamy appearance of blood when drawn for testing
- Enlarged liver or spleen that your doctor may feel during an exam
- Abdominal pain if triglycerides are extremely high
- Nausea or vomiting related to pancreatitis risk
- Fatigue or feeling generally unwell
Many people with familial hypertriglyceridemia have no symptoms at all. The condition is often discovered during routine blood work. This is why regular testing is so important for catching lipid disorders early.
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Causes and risk factors
Familial hypertriglyceridemia is caused by genetic mutations that affect how your liver processes fats. The condition runs in families and is passed from parent to child. When you inherit this genetic variant, your liver produces too much VLDL cholesterol. This leads to elevated triglyceride levels in your bloodstream.
Certain lifestyle factors can make the condition worse. Eating a diet high in refined carbohydrates and sugar can raise triglycerides further. Drinking alcohol, being overweight, and not exercising regularly all contribute to higher levels. Other medical conditions like diabetes, hypothyroidism, and kidney disease can also elevate triglycerides. Some medications including steroids, beta blockers, and estrogen may increase levels too.
How it's diagnosed
Familial hypertriglyceridemia is diagnosed through blood testing. A lipid panel measures your triglycerides, total cholesterol, LDL cholesterol, HDL cholesterol, and VLDL cholesterol. The VLDL cholesterol measurement is especially important for identifying this condition. It helps your doctor distinguish familial hypertriglyceridemia from other lipid disorders.
Rite Aid offers testing that includes VLDL cholesterol and other key markers for lipid health. You can get tested at over 2,000 Quest Diagnostics locations nationwide. Your doctor will also ask about your family history of high triglycerides or heart disease. If multiple family members have high triglycerides, a genetic cause is more likely. Testing should be done after fasting for 9 to 12 hours for the most accurate results.
Treatment options
- Reduce intake of refined carbohydrates, sugary foods, and simple sugars
- Limit or avoid alcohol, which can significantly raise triglycerides
- Eat more omega-3 fatty acids from fatty fish like salmon, sardines, and mackerel
- Increase physical activity to at least 150 minutes per week
- Achieve and maintain a healthy body weight
- Manage underlying conditions like diabetes and thyroid disorders
- Consider fibrate medications like fenofibrate or gemfibrozil when lifestyle changes are not enough
- High-dose omega-3 supplements or niacin may be recommended by your doctor
- Regular blood testing to monitor triglyceride and VLDL cholesterol levels
- Work with a registered dietitian for personalized nutrition guidance
Concerned about Familial Hypertriglyceridemia? 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
Familial hypertriglyceridemia is a genetic condition you inherit from your parents. Regular high triglycerides are usually caused by lifestyle factors alone. With the familial form, your liver naturally produces too much VLDL cholesterol because of your genes. People with this genetic condition often need both lifestyle changes and medication to manage their levels.
Familial hypertriglyceridemia cannot be cured because it is a genetic condition. However, it can be managed very effectively. Most people can keep their triglyceride levels in a safer range through diet changes, exercise, and medication when needed. Regular monitoring with blood tests helps you and your doctor track your progress.
Most people with familial hypertriglyceridemia have triglyceride levels between 200 and 500 mg/dL. Normal triglyceride levels are below 150 mg/dL. Some people may have even higher levels, especially if they also have poor diet habits or other health conditions. Very high levels above 500 mg/dL increase the risk of pancreatitis.
Avoid or limit refined carbohydrates like white bread, white rice, and pasta. Cut back on sugary foods and drinks including soda, candy, and baked goods. Alcohol is especially important to limit because it can raise triglycerides significantly. Focus on whole grains, vegetables, lean proteins, and healthy fats instead.
If you have familial hypertriglyceridemia, you should get tested at least twice a year. More frequent testing may be needed when you first start treatment or change medications. Regular testing helps you see how well your lifestyle changes and medications are working. Your doctor may recommend more frequent testing if your levels are very high.
Each of your children has a 50% chance of inheriting familial hypertriglyceridemia. The condition follows an autosomal dominant pattern. This means only one copy of the altered gene is needed to cause the condition. If you have this diagnosis, your children should get their triglyceride levels checked starting in childhood or early adulthood.
VLDL stands for very low density lipoprotein. It is a particle made by your liver that carries triglycerides through your bloodstream. In familial hypertriglyceridemia, your liver makes too much VLDL. Measuring VLDL cholesterol helps doctors identify this specific condition and distinguish it from other lipid disorders.
Yes, regular exercise can significantly lower triglyceride levels. Aim for at least 150 minutes of moderate activity each week. Activities like brisk walking, swimming, cycling, and jogging all help. Exercise helps your body use triglycerides for energy and improves how your liver processes fats. Even small increases in activity can make a difference.
Fibrates like fenofibrate and gemfibrozil are the most common medications for this condition. They work by reducing the amount of VLDL your liver produces. High-dose omega-3 supplements containing EPA and DHA can also help lower triglycerides. Niacin is another option but can have side effects. Your doctor will choose the best medication based on your specific levels and health history.
Untreated high triglycerides increase your risk of heart disease and heart attack. Very high levels can cause acute pancreatitis, a serious and painful condition. Chronic high triglycerides may contribute to fatty liver disease. The good news is that treatment significantly reduces these risks. Regular testing and working with your doctor can help you stay healthy long-term.