Chilton Medical Center - ATLANTIC HEALTH SYSTEM
Decrease (-) Restore Default Increase (+)  font size
PrintEmail
Search Health Information   

Coronary artery disease
Coronary artery disease


Familial dysbetalipoproteinemia

Definition:

Familial dysbetalipoproteinemia is a disorder passed down through families. It causes high amounts of cholesterol and triglycerides in the blood.



Alternative Names:

Type III hyperlipoproteinemia; Deficient or defective apolipoprotein E



Causes:

A genetic defect causes this condition. The defect results in the buildup of large lipoprotein particles that contain both cholesterol and a type of fat called triglycerides. 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.

Other symptoms may include:

  • Chest pain (angina) or other signs of coronary artery disease; may be present at a young age
  • Cramping of one or both calves when walking
  • Sores on the toes that do not heal
  • Sudden stroke-like symptoms such as trouble speaking, drooping on one side of the face, weakness of an arm or leg, and loss of balance


Exams and Tests:

Tests that may be done to diagnose this condition include:



Treatment:

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

Making diet changes to reduce calories, saturated fats, and cholesterol may help lower blood cholesterol.

If cholesterol and triglyceride levels are still high after you have made diet changes, your doctor may have you take medicines as well. Medicine to lower blood triglyceride and cholesterol levels include:

  • Bile acid-sequestering resins
  • Fibrates (gemfibrozil, fenofibrate)
  • Nicotinic acid
  • Statins


Outlook (Prognosis):

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

With treatment, most people are able to greatly reduce their lipid levels.



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


When to Contact a Medical Professional:

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 people with this condition may lead to early detection and treatment.

Getting treated early and limiting other risk factors such as smoking can help prevent early heart attacks, strokes, and blocked blood vessels.



References:

Genest J, Libby P. Lipoprotein disorders and cardiovascular disease. In: Bonow RO, Mann DL, Zipes DP, Libby P, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 9th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 47.

Semenkovich, CF. Disorders of lipid metabolism. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 24th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 213.




Review Date: 5/20/2014
Reviewed By: Larry A. Weinrauch MD, Assistant Professor of Medicine, Harvard Medical School, Cardiovascular Disease and Clinical Outcomes Research, Watertown, MA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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.
adam.com


Morristown Medical Center
100 Madison Avenue
Morristown, NJ 07960
973-971-5000

Overlook Medical Center
99 Beauvoir Avenue
Summit, NJ 07901
908-522-2000

Newton Medical Center
175 High Street
Newton, NJ 07860
973-383-2121

Chilton Medical Center
97 West Parkway
Pompton Plains, NJ 07444
973-831-5000

Goryeb Children's Hospital
100 Madison Avenue
Morristown, NJ 07960
973-971-5000

Atlantic Medical Group
1-800-247-9580

Morristown Medical Center

100 Madison Avenue
Morristown, NJ 07960
973-971-5000

Overlook Medical Center

99 Beauvoir Avenue
Summit, NJ 07901
908-522-2000

Newton Medical Center

175 High Street
Newton, NJ 07860
973-383-2121

Chilton Medical Center

97 West Parkway
Pompton Plains, NJ 07444
973-831-5000

Goryeb Children's Hospital

100 Madison Avenue
Morristown, NJ 07960
973-971-5000

Affiliated Providers

Atlantic Medical Group

More than 600 community-based health care providers.
1-800-247-9580

© 2015 Chilton Medical Center, 97 West Parkway, Pompton Plains, New Jersey 1-973-831-5000