Familial dysbetalipoproteinemia is a disorder passed down through families in which there are high amounts of cholesterol and triglycerides in the blood.
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.
Symptoms may not be seen until age 20 or older.
Yellow deposits of fatty material in the skin called
Signs and tests
Tests that may be done to diagnose this condition include:
- Genetic testing for apolipoprotein E (apoE)
- Heart stress test
- Lipid panel blood test
Triglyceride level Very low density lipoprotein (VLDL) test
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 medication to lower your triglyceride and cholesterol levels. Medicine to lower blood triglyceride and cholesterol levels include:
Bile acid-sequestering resins
Fibrates (gemfibrozil, fenofibrate)
People with this condition have an increased risk for
With treatment, most people show a significant reduction in lipid levels.
- Heart attack
- 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
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.