Familial Combined Hyperlipidemia

Familial Combined Hyperlipidemia

Alternate Names

  • type IIb hyperlipoproteinemia

Definition

Familial combined hyperlipidemia is an inherited disease that causes high levels of fats, that is, cholesterol and/or triglycerides, in the blood.

What is going on in the body?

This condition may cause high cholesterol, high triglycerides, or both. These are each two types of fat in the body. Normally, the liver makes a small amount of cholesterol. When a person has this disease, the liver produces too much cholesterol.
Other problems also occur with fat metabolism, depending on which specific abnormal gene was inherited. This condition increases a person's risk of having clogged arteries from atherosclerosis, which may lead to a heart attack, stroke, or other diseases.

Risks

What are the causes and risks of the condition?

This condition is inherited and occurs in about 1% of people in the US.

Prevention

What can be done to prevent the condition?

An inherited condition cannot be prevented once a person is born. Genetic counseling may be helpful to couples with a family history of the disease.

Diagnosed

How is the condition diagnosed?

This condition is diagnosed by the family history and cholesterol screening. The cholesterol and the triglyceride level in the blood are often high.

Long Term Effects

What are the long-term effects of the condition?

A person with this disease has an increased risk of clogged arteries from atherosclerosis. For example, an affected person is 4 times more likely than normal to have a heart attack. Clogged arteries may lead to heart disease, a heart attack, stroke, and other diseases.

Other Risks

What are the risks to others?

This condition is inherited and is not contagious. Children and other family members of the affected person should have cholesterol screening. Early detection and treatment of this disease may delay artery blockage.

Treatments

What are the treatments for the condition?

Anyone with this condition should speak to a healthcare professional about treatment. This disease responds to diet changes and weight loss. A low-fat, low-calorie diet and exercise are advised. Reducing other coronary risk factors is important.
For instance, it is very important not to smoke, and to keep oneself within the ideal weight range. Any high blood pressure or diabetes should be kept under control by appropriate treatment.
The following conditions may also worsen the cholesterol level, and should be avoided or treated:
  • underactive thyroid gland, that is, hypothyroidism
  • kidney disease
  • severe infection
  • alcohol abuse
Treatment of familial hyperlipidemia usually requires medication, often with more than one type of medication.
Examples of medication used include:
  • bile acid resins, such as cholestyramine (i.e., Questran) and colestipol (i.e., Colestid),
  • statin drugs, such as atorvastatin (i.e., Lipitor), fluvastatin (i.e., Lescol), lovastatin (i.e., Altoprev, Mevacor), pravastatin (i.e., Pravachol), and simvastatin (i.e., Zocor)
  • niacin (i.e., Niaspan, Slo-Niacin).

Side Effects

What are the side effects of the treatments?

Because the liver makes cholesterol, most of the medications that treat cholesterol may affect the liver. For this reason, someone taking medications to lower cholesterol often needs periodic liver function tests.
Specific side effects vary by the medication, but may include:
  • constipation with bile acid resins
  • flushing, itching, and increased blood sugar with niacin
  • muscle aches with statins

After Treatment

What happens after treatment for the condition?

Treatment is generally required for life.

Monitor

How is the condition monitored?

Repeated checks of the cholesterol level in the blood are done to see how well the treatment is working. Someone taking cholesterol-lowering medications will need periodic liver function tests. Chest pain or pressure or shortness of breath should be reported to a healthcare provider right away. This may be a sign of a heart attack.

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