Overview

Familial combined hyperlipidemia is an inherited disorder that causes high cholesterol and high levels of triglycerides in the blood. It is the most common of all genetic disorders that increase blood fats, and it strikes one to two percent of the population, according to Kaiser Permanente. (Kaiser Permanente)

The disorder is passed down genetically, but the exact genes for this disorder have not yet been identified.

What Are the Symptoms of Familial Combined Hyperlipidemia?

Some individuals have no physical symptoms from the disease. For others, it may cause chest pain. If you have familial combined hyperlipidemia, its main effect on your health will be an increase in your cholesterol and triglyceride levels. This makes you more at risk for heart disease and early heart attacks. Many people with this condition also have higher rates of glucose intolerance and obesity.

Are there Risk Factors for the Condition?

Although familial combined hyperlipidemia is inherited, there are factors that can make the disease worse. Alcoholism, diabetes, obesity, and hypothyroidism can all worsen symptoms of the condition.

A family history of high cholesterol and early heart disease are also risk factors for developing the disorder.

How Is Familial Combined Hyperlipidemia Diagnosed?

This condition easily diagnosed through simple blood testing. (Zieve, et al.) The disease usually becomes known during adolescence, when lab tests first show increased cholesterol and triglyceride levels in the blood.

Your doctor will first perform a physical exam and ask about your family history. Simple blood tests for both LDL and HDL cholesterol levels, along with tests for triglycerides and apolipoprotein B100, help your doctor make the diagnosis.

Familial combined hyperlipidemia will cause the LDL, triglycerides and apolipoprotein B100 to elevate. Levels of HDL cholesterol will be lower than the average.

Before the blood tests, you will have to fast for nine to 12 hours. You may be allowed to drink plain water, but you cannot eat or drink anything else. Let your doctor know about any medications or supplements you may take. Be sure to ask whether you should continue taking these prior to your blood test.

How Is the Condition Treated?

A combination of lifestyle changes and medication is typically used to help treat familial combined hyperlipidemia. The goal of treatment is not to cure the disorder, but to reduce the risk of heart disease.

Lifestyle Changes

Dietary and lifestyle changes are a common first-line treatment. One key step is to lower the amount of fat in your diet, especially saturated fat. Typically, you should reduce your total fat intake to less than 30 percent of your total daily calories. (Zieve, et al.)

Eating less meat and substituting low-fat dairy products for high-fat products is also recommended. By increasing your fiber intake, you can help reduce fat and caloric intake. Avoid egg yolks and organ meats to reduce your cholesterol intake. If you need help adjusting your diet, your doctor may suggest that you see a nutritionist.

Regular exercise and weight loss are other ways you can reduce the risk of heart disease.

Medication

Medication is prescribed when lifestyle changes are not enough to lower cholesterol levels. Every drug has a different effect on cholesterol. Statins, fibrates, nicotinic acid, and bile acid-sequestering resins may be prescribed, depending on your individual situation.

Be sure to let your doctor know if you take any other medications or supplements, or if you have allergies to any drugs.

Omega-3 Fatty Acids

If you have high triglycerides, your doctor may suggest taking fish oil supplements. These have been shown to help lower triglycerides and provide you with healthy omega-3 fatty acids. Do not take these supplements without first asking your doctor.

What Is the Long-Term Outlook for the Condition?

An individual’s long-term outlook depends on when the condition is diagnosed and how it is treated. An earlier diagnosis, along with treatment, carries a better prognosis.

Compliance with treatment—especially the diet and lifestyle changes—is also important. By failing to follow the diet and exercise guidelines, you raise your risk of having a heart attack or stroke. Unhealthy behaviors, such as smoking, can also interfere with effective treatment for this condition.

For some, their lipid levels might be so high that medical therapy is not able to drastically reduce the risk of heart attack. In these cases, there is still an increased risk, despite treatment.