Familial dysbetalipoproteinemia
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| Familial dysbetalipoproteinemia Classification and external resources |
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Synonyms: Type III hyperlipoproteinemia; Deficient or defective apolipoprotein E
Definition
Familial dysbetalipoproteinemia is a disorder passed down through families in which there are high amounts of cholesterol and triglycerides in the blood.
Causes
A genetic defect causes this condition. The defect results in the build up 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.
Exams and Tests
Tests that may be done to diagnose this condition include:
- Angiogram
- Genetic testing for apolipoprotein E (apoE)
- Heart stress test
- Total cholesterol
- Triglyceride level
- Very low density lipoprotein (VLDL) test
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
Prognosis
Persons 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.
Possible Complications
- Heart attack
- Stroke
- Peripheral vascular disease
- Intermittent claudication
- Gangrene of the lower extremities
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.
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
