Familial Combined Hyperlipidemia

Familial combined hyperlipidemia is an inherited disorder that causes high cholesterol and high levels of triglycerides in the blood. It’s fairly common, affecting 1-2 percent of the population, according to a study published in Human Molecular Genetics.

While researchers know the disorder is passed down genetically, they haven’t yet identified the exact genes for it.

Some people have no physical symptoms from the disease. Others may get chest pain. The main symptom of familial combined hyperlipidemia is 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.

Although familial combined hyperlipidemia is inherited, there are factors that can make it worse. These include:

• alcoholism
• diabetes
• obesity
• hypothyroidism

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

Your doctor will perform a physical exam and ask about your family history. Then, they'll order blood tests. The first blood tests for this disorder are generally ordered during adolescence. That's when lab tests first show increased cholesterol and triglyceride levels in the blood.

Blood tests for the following will help your doctor make the diagnosis:

LDL cholesterol

• HDL cholesterol
• triglycerides
• apolipoprotein B100

Preparing for Your Blood Test

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

Understanding Your Results

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

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. Here are some changes to consider:

• Adjust your total fat intake to no more than 30 percent of your total daily calories.
• Lower your intake of saturated fat.
• Eat less meat.
• Substitute low-fat dairy products for full-fat products.
• Eat more fiber which helps you feel fuller so that you eat less total calories.
• Avoid egg yolks and organ meats which are high in cholesterol.

If you need help changing 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 aren’t enough to lower cholesterol levels. Every drug has a different effect on cholesterol. Some of the following medications may be prescribed, depending on your individual situation:

• statins
• fibrates
• nicotinic acid
• bile acid-sequestering resins

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. Don’t take these supplements without first asking your doctor.

Your long-term outlook depends on when the condition is diagnosed, and how it’s treated.

Following your treatment plan, especially the diet and lifestyle changes, is very important. If you don't 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.

Some people's lipid levels might be so high that medical therapy is not able to substantially reduce the risk of heart attack.

In general, an early diagnosis and following your doctor’s recommendations for treatment provide your best options for improvement.