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Familial dysbetalipoproteinemia

Type III hyperlipoproteinemia; Deficient or defective apolipoprotein E

 

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

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:

  • Genetic testing for apolipoprotein E (apoE)
  • Lipid panel blood test
  • Triglyceride level
  • Very low density lipoprotein (VLDL) test

 

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 health care provider may have you take medicines as well. Medicines to lower blood triglyceride and cholesterol levels include:

  • Bile acid-sequestering resins.
  • Fibrates (gemfibrozil, fenofibrate).
  • Nicotinic acid.
  • Statins.
  • PCSK9 inhibitors, such as alirocumab (Praluent) and evolocumab (Repatha). These represent a newer class of drugs to treat cholesterol.

 

Outlook (Prognosis)

 

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

With treatment, most people are able to greatly reduce their levels of cholesterol and triglycerides.

 

Possible Complications

 

Complications may include:

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

 

When to Contact a Medical Professional

 

Call your 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: Mann DL, Zipes DP, Libby P, Bonow RO, Braunwald, E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 10th ed. Philadelphia, PA: Elsevier Saunders; 2015:chap 45.

Navarese EP, Kolodziejczak M, Schulze V, et al. Effects of proprotein convertase subtilisin/kexin type 9 antibodies in adults with hypercholesterolemia: a systematic review and meta-analysis. Ann Intern Med. 2015;163(1):40-51. PMID: 25915661 www.ncbi.nlm.nih.gov/pubmed/25915661.

Robinson JG, Farnier M, Krempf M, et al. Efficacy and safety of alirocumab in reducing lipids and cardiovascular events. N Engl J Med. 2015;372(16):1489-1499. PMID: 25773378 www.ncbi.nlm.nih.gov/pubmed/25773378.

Semenkovich CF. Disorders of lipid metabolism. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 206.

 
  • Coronary artery disease

    Coronary artery disease - illustration

    The coronary arteries supply blood to the heart muscle itself. Blood supply through these arteries is critical for the heart. Coronary artery disease usually results from the build-up of fatty material and plaque, a condition called atherosclerosis. As the coronary arteries narrow, the flow of blood to the heart can slow or stop, causing chest pain (stable angina), shortness of breath, heart attack, or other symptoms.

    Coronary artery disease

    illustration

    • Coronary artery disease

      Coronary artery disease - illustration

      The coronary arteries supply blood to the heart muscle itself. Blood supply through these arteries is critical for the heart. Coronary artery disease usually results from the build-up of fatty material and plaque, a condition called atherosclerosis. As the coronary arteries narrow, the flow of blood to the heart can slow or stop, causing chest pain (stable angina), shortness of breath, heart attack, or other symptoms.

      Coronary artery disease

      illustration

    Self Care

     

      Tests for Familial dysbetalipoproteinemia

       

         

        Review Date: 5/5/2016

        Reviewed By: Michael A. Chen, MD, PhD, Associate Professor of Medicine, Division of Cardiology, Harborview Medical Center, University of Washington Medical School, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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