What is Familial Hypercholesterolemia

Summary:

Familial Hypercholesterolemia should be suspected when the LDL cholesterol level is above 189 mg/dL or the non-HDL cholesterol level is above 219 mg/dL. A family history of high cholesterol and cardiovascular disease in 1st degree relatives should be looked at.

More details:

It is an inherited disorder that leads to aggressive and premature cardiovascular disease. This includes problems like:

heart attacks, strokes, and narrowing of the heart valves.

The vast majority of the cholesterol circulating in a person’s body is produced by the liver. Cholesterol is a necessary component in the structure and function of human cells. Individuals with Familial Hypercholesterolemia are unable to recycle this natural supply of cholesterol that their bodies are constantly producing. Therefore, the cholesterol levels of an individual with Familial Hypercholesterolemia are exceedingly high. Over time the elevated blood cholesterol can lead to blockages in the arteries of the heart and/or brain. The longer a person experiences high LDL-C, the more likely he or she will be to experience cardiovascular events.

Causes of Familial Hypercholesterolemia: 

Familial hypercholesterolemia is a genetic disorder. It is caused by a defect on chromosome 19.

The defect makes the body unable to remove low density lipoprotein (LDL, or bad) cholesterol from the blood. This results in a high level of LDL in the blood. This makes you more likely to have narrowing of the arteries from atherosclerosis at an early age. The condition is typically passed down through families in an autosomal dominant manner. That means you only need to get the abnormal gene from one parent in order to inherit the disease.

There are two forms of FH:

If you have inherited this genetic mutation from one parent, then you will have Heterozygous FH (HeFH). HeFH occurs in 1 in 250 people worldwide. If you inherit FH from both parents, it is much more severe in its consequences. This form of FH is called Homozygous FH (HoFH). It is very rare, occurring in about 1 in 160,000 to one million people worldwide.

What are the symptoms of familial hypercholesterolemia?

The major symptoms and signs of familial hypercholesterolemia are:

• High levels of total cholesterol and LDL cholesterol.
• A strong family history of high levels of total and LDL cholesterol and/or early heart attack.
• Elevated and therapy-resistant levels of LDL in either or both parents.
• Xanthomas (waxy deposits of cholesterol in the skin or tendons).
• Xanthelasmas (cholesterol deposits in the eyelids).
• Corneal arcus (cholesterol deposit around the cornea of the eye).
• If angina (chest pain) is present, it may be sign that heart disease is present.

Individuals who have homozygous familial hypercholesterolemia develop xanthomas beneath the skin over their elbows, knees and buttocks as well as in the tendons at a very early age, sometime in infancy. Heart attacks and death may occur before 30.

What is the treatment for familial hypercholesterolemia?

The overall goal of treatment is to lower the risk for atherosclerotic heart disease by lowering the LDL cholesterol levels in the blood stream. Atherosclerosis is a condition in which fatty material collects along the walls of arteries. This fatty material thickens, hardens, and may eventually block the arteries. Atherosclerosis happens when fat and cholesterol and other substances build up in the arteries and form a hardened material called plaque. The plaque deposits make the arteries less flexible and more difficult for blood to flow leading to heart attack and stroke.

The first step in treatment for an individual who has heterozygous familial hypercholesterolemia is changing the diet to reduce the total amount of fat eaten to 30 percent of the total daily calories. This can be done by limiting the amount of beef, pork, and lamb in the diet; cutting out butter, whole milk and fatty cheeses as well as some oils like coconut and palm oils; and eliminating egg yolks, organ meats and other sources of saturated fat from animals. Dietary counseling is often recommended to help people to make these changes in their eating habits.

Exercise, especially to lose weight, may also help in lowering cholesterol levels.

Drug therapy is usually necessary in combination with diet, weight loss, and exercise, as these interventions may not be able to lower cholesterol levels alone. There are a number of cholesterol-lowering medications that are currently used. The first and more effective choice are drugs called “statins.” Other drugs that may be used in combination with or instead of the statins are: bile acid sequestrant resins (for example, cholestyramine), ezetemibe, nicotinic acid (niacin), gemfibrozil, and fenofibrate.

Individuals who have homozygous familial hypercholesterolemia need more aggressive therapies to treat their significantly elevated levels of cholesterol. Often drug therapies are not sufficient to lower LDL cholesterol levels at the desiderated goal and these individuals may require periodical LDL apheresis, a procedure to “clean up” LDL from the blood stream, or highly invasive surgery such as a liver transplant.

References:

• J Clin Lipidol 2011 ; 5 : 133-140
• Familial Hypercholesterolemia (FH) – http://www.heart.org/en/health-topics/cholesterol/causes-of-high-cholesterol/familial-hypercholesterolemia-fh

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