Familial hypercholesterolemia – Symptoms, cause, treatment

Familial hypercholesterolemia

Hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood.

For a portion of people, hypercholesterolemia is inherited, a common form of inherited hypercholesterolemia is called Familial hypercholesterolemia, which is a genetic disorder. This condition is present from birth. 

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.


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.

If cholesterol accumulates in tendons, it causes characteristic growths called tendon xanthomas. These growths most often affect the Achilles tendons and tendons in the hands and fingers. Yellowish cholesterol deposits under the skin of the eyelids are known as xanthelasmata. Cholesterol can also accumulate at the edges of the clear, front surface of the eye (the cornea), leading to a gray-colored ring called an arcus cornealis.


Familial hypercholesterolemia affects about 1 in 500 people in most countries. Familial hypercholesterolemia occurs more frequently in certain populations, including Afrikaners in South Africa, French Canadians, Lebanese, and Finns.

Mutations in the APOB, LDLR, LDLRAP1, and PCSK9 genes cause hypercholesterolemia.

The gene is passed down from one or both parents. People who have this condition are born with it. Most people who have the condition got one affected gene. But in rare cases, a child can get the affected gene from both parents. This can cause a more severe form of the condition.


Familial hypercholesterolemia can be diagnosed with a genetic test. This will reveal if you have the defective gene that causes the condition.


The treatment of familial hypercholesterolemia is a combination of medication, diet and exercises.

Common medication choices include:

  • Statins — 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.
  • 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.

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.


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