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Coronary artery disease
Coronary artery disease


Definition:

Familial dysbetalipoproteinemia is a disorder passed down through families in which there are high amounts of cholesterol and triglycerides in the blood.



Alternative Names:

Type III hyperlipoproteinemia; Deficient or defective apolipoprotein E



Causes, incidence, and risk factors:

A genetic defect causes this condition. The defect results in the buildup of large lipoprotein particles that contain both cholesterol and triglycerides, a type of fat. The disease is linked to defects in the gene for apolipoprotein E in many cases.

Hypothyroidism , obesity , or diabetes can make the condition worse. Risk factors for familial dysbetalipoproteinemia include a family history of the disorder or coronary artery disease.



Symptoms:

Symptoms may not be seen until age 20 or older.

Yellow deposits of fatty material in the skin called xanthomas may appear on the eyelids, palms of the hands, soles of the feet, or on the tendons of the knees and elbows.

Atherosclerosis develops. There may be early chest pain (angina) or decreased blood flow to specific parts of the body, causing transient ischemic attacks of the brain or peripheral artery disease.



Signs and tests:

Tests that may be done to diagnose this condition include:



Treatment:

The goal of treatment is to control underlying conditions such as obesity, hypothyroidism, and diabetes.

Reducing calories, saturated fats, and cholesterol may significantly reduce cholesterol levels.

If high cholesterol and triglyceride levels continue despite diet changes, your doctor may recommend medicine to lower your cholesterol. Medicine to lower cholesterol levels include:

  • Bile acid-sequestering resins
  • Fibrates
  • Nicotinic acid
  • Statins


Support Groups:



Expectations (prognosis):

People with this condition have an increased risk for coronary artery disease and peripheral vascular disease.

With treatment, most people show a significant reduction in lipid levels.



Complications:
  • Heart attack
  • Stroke
  • Peripheral vascular disease
  • Intermittent claudication
  • Gangrene of the lower extremities


Calling your health care provider:

Call your health care provider if you have been diagnosed with this disorder and:

  • New symptoms develop
  • Symptoms do not improve with treatment
  • Symptoms get worse


Prevention:

Screening the family members of those with familial dysbetalipoproteinemia may lead to early detection and treatment.

Early treatment and avoiding other risk factors for vascular disease (such as smoking) are crucial to preventing early heart attacks, strokes, and blocked blood vessels.




Review Date: 1/23/2008
Reviewed By: Glenn Gandelman, MD, MPH, Assistant Clinical Professor of Medicine, New York Medical College, Valhalla, NY. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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789 Central Avenue, Dover, NH 03820
Phone: (603) 742-5252
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