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Familial hypercholesterolemia

Overview

Familial hypercholesterolemia affects the way the body processes cholesterol. As a result, people with familial hypercholesterolemia have a higher risk of heart disease and a greater risk of early heart attack.

The gene that causes familial hypercholesterolemia is inherited. The condition is present from birth. Treatments including medications and healthy lifestyle behaviors can help reduce the risks.

Symptoms

High cholesterol is a common medical condition, but it's often the result of unhealthy lifestyle choices, and thus preventable and treatable. With familial hypercholesterolemia, a person's risk of high cholesterol is higher because a defect (mutation) in a gene changes how the body processes cholesterol. This mutation prevents the body from removing low-density lipoprotein (LDL) cholesterol, the "bad" cholesterol, from the blood. As a result, plaques can cause your arteries to narrow and harden, increasing the risk of heart disease. Genetic testing can reveal whether you have this mutation.

These gene mutations are passed from parent to child. To have the condition, children need to inherit an altered copy of the gene from one parent. Most people with familial hypercholesterolemia have one affected gene and one normal gene. In rare cases, a person inherits an affected copy from both parents, which can lead to a more severe form of the condition.

Treatment

Lifestyle changes, such as exercising and eating a healthy low-fat diet, are the first line of defense against high cholesterol. Specific recommendations include:

  • Reducing the amount of saturated fat in your diet to less than 30 percent of your daily calories.
  • Consuming 10 to 20 grams of soluble fiber a day. Good sources include oats, peas, beans, apples, citrus fruits and carrots.
  • Increasing physical activity.
  • Maintaining a healthy body weight.

With familial hypercholesterolemia, your doctor likely will also recommend that you take medication to help lower your LDL cholesterol levels. The specific medication or medications depend on various factors, including your risk factors, your age, your current health and possible side effects.

Common medication choices include:

  • Statins. Statins — among the most commonly prescribed medications for lowering cholesterol — block a substance your liver needs to make cholesterol. This causes your liver to remove cholesterol from your blood. Statins may also help your body reabsorb cholesterol from built-up deposits on your artery walls, potentially reversing coronary artery disease. Choices include atorvastatin (Lipitor), fluvastatin (Lescol), lovastatin (Altoprev,), pitavastatin (Livalo), pravastatin (Pravachol), rosuvastatin (Crestor) and simvastatin (Zocor).
  • Bile-acid-binding resins. Your liver uses cholesterol to make bile acids, a substance needed for digestion. The medications cholestyramine (Prevalite), colesevelam (Welchol) and colestipol (Colestid) lower cholesterol indirectly by binding to bile acids. This prompts your liver to use excess cholesterol to make more bile acids, which reduces the level of cholesterol in your blood.
  • Cholesterol absorption inhibitors. Your small intestine absorbs the cholesterol from your diet and releases it into your bloodstream. The drug ezetimibe (Zetia) helps reduce blood cholesterol by limiting the absorption of dietary cholesterol. Zetia can be used in combination with any of the statin drugs.
  • Combination cholesterol absorption inhibitor and statin. The combination drug ezetimibe-simvastatin (Vytorin) decreases both absorption of dietary cholesterol in your small intestine and production of cholesterol in your liver. It's unknown whether Vytorin is more effective in reducing heart disease risk than taking simvastatin by itself.
  • Injectable medications. A new class of drugs can help the liver absorb more LDL cholesterol — which lowers the amount of cholesterol circulating in your blood. The Food and Drug Administration recently approved alirocumab (Praluent) and evolocumab (Repatha) for people who have a genetic condition that causes very high levels of LDL. These drugs may also be used for people who have had heart attacks or strokes and need additional lowering of their LDL levels. These injectable drugs are administered at home one or two times a month.

Medications for high triglycerides

If you also have high triglycerides, your doctor may prescribe:

  • Fibrates. The medications fenofibrate (Tricor) and gemfibrozil (Lopid) decrease triglycerides by reducing your liver's production of very-low-density lipoprotein (VLDL) cholesterol and by speeding up the removal of triglycerides from your blood. VLDL cholesterol contains mostly triglycerides.
  • Niacin. Niacin (Niaspan) decreases triglycerides by limiting your liver's ability to produce LDL and VLDL cholesterol. But niacin doesn't usually provide any additional benefit than using statins alone. Niacin has also been linked to liver damage and stroke, so most doctors now recommend it only for people who can't take statins.
  • Omega-3 fatty acid supplements. Omega-3 fatty acid supplements can help lower your triglycerides. They are available by prescription or over-the-counter. If you choose to take over-the-counter supplements, get your doctor's OK first. Omega-3 fatty acid supplements could affect other medications you're taking.

Tolerance varies

Tolerance of medications varies from person to person. The reported side effects are muscle pains, stomach pain, constipation, nausea and diarrhea. If you decide to take cholesterol-lowering medication, your doctor may recommend liver function tests to monitor the medication's effect on your liver.

Children and cholesterol treatment

Diet and exercise are the best initial treatment for children age 2 and older who have high cholesterol, or who are obese. Children age 10 and older might be prescribed cholesterol-lowering drugs, such as statins, if they have extremely high cholesterol levels.

Last updated: November 17th, 2017

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