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Familial Dysbetalipoproteinemia

Familial Dysbetalipoproteinemia

Familial dysbetalipoproteinemia is an inherited disorder. It causes high cholesterol and triglyceride levels in the blood. People who inherit this condition are at high risk of developing hardening of the arteries (atherosclerosis) early in life. They also are at high risk of heart attack and stroke.

Other names used for familial dysbetalipoproteinemia are:

  • type III hyperlipoproteinemia
  • deficient apolipoprotein E
  • defective apolipoprotein E
  • broad beta disease
  • remnant removal disease

In most cases, lifestyle choices and early medical treatment can keep symptoms under control.

Causes of Familial Dysbetalipoproteinemia

This disorder is the result of a genetic defect. It is more likely to cause symptoms in men than women. It also tends to develop earlier in men.

If one of your parents has this disorder, you have a 50 percent chance of inheriting it. If both of your parents are affected, you have a 75 percent chance of inheriting it. However, not all people with this condition know their parents have it. They may just know there is a family history of coronary artery disease.

There is no way to prevent a genetic disorder. However, you can reduce your risk of symptoms by avoiding or controlling factors that increase your risk of coronary artery disease. These factors include:

  • smoking,
  • obesity
  • diabetes
  • hypothyroidism (under-active thyroid)

Symptoms of Familial Dysbetalipoproteinemia

Signs that you may have this disorder include:

High Levels of Cholesterol and Triglycerides

Your body gets cholesterol in two ways. Your body manufactures approximately 75 percent and about 25 percent is from your food intake. This type of cholesterol comes from animal products.

There are two types of cholesterol—HDL, the healthy cholesterol, and LDL, the bad cholesterol that clogs the walls of your arteries. Cholesterol tests of your blood measure levels of both HDL and LDL.

Triglycerides in your blood come from fat. You may get them directly from the food you eat. They can also be made when your body breaks down other energy sources, like carbohydrates. When your body does not use calories right away, they are broken down into triglycerides and stored in fat cells until needed for energy. High triglyceride levels in your blood can contribute to coronary artery disease.

Yellow Deposits on Your Skin

These deposits are called xanthomas. They consist of fatty material and are usually found on the soles of the feet, palms of the hands, knee and elbow tendons, or eyelids.

Hardening of the Arteries at a Young Age

This can be accompanied by chest pain (angina). It can also decrease blood flow in a way that temporarily causes symptoms similar to stroke. This is called a transient ischemic attacks or TIA.

Symptoms generally do not appear before the age of 20.

Complications of Familial Dysbetalipoproteinemia

This disorder increases your chances of developing:

  • peripheral vascular disease (narrowing of the arteries in the legs and feet)
  • intermittent claudication (pain in the legs)
  • gangrene of the feet or legs
  • stroke
  • heart attack

If you are overweight, diabetic, or have hypothyroidism, your symptoms may be worse.

How Familial Dysbetalipoproteinemia Is Diagnosed

Genetic testing can diagnosis this condition. Other tests that may be used include:

  • heart stress test
  • blood tests to check cholesterol and triglyceride levels
  • very low-density lipoprotein testing (VLDL)
  • angiogram (an imaging test to check blood flow)

How Familial Dysbetalipoproteinemia Is Treated

Maintaining a healthy lifestyle is the key to successfully treating this condition. You should:

  • eat a healthy diet and avoid saturated fats and foods high in cholesterol
  • maintain a healthy weight—if you are overweight, ask your doctor how to lose weight in a healthy way
  • exercise regularly
  • keep diabetes and other health conditions under control
  • don’t smoke—if you do smoke, quit
  • see your doctor regularly

Lifestyle adjustments may not be enough to keep your lipids under control. Your doctor may also prescribe medications to lower your cholesterol and triglyceride levels.

Content licensed from:

Written by: Ann Pietrangelo
Medically reviewed : George Krucik, MD

This feature is for informational purposes only and should not be used to replace the care and information received from your health care provider. Please consult a health care professional with any health concerns you may have.
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