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Familial dysbetalipoproteinemia - Symptom

Alternative Names

Type III hyperlipoproteinemia; Deficient or defective apolipoprotein E

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 at an early age. 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 with claudication.

Signs 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

Coronary artery disease

Reviewed last on: 5/23/2010
David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc., and David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine.

References

Mahley RW, Weisgraber KH, Bersot TP. Disorders of lipid metabolism. In: Kronenberg HM, Melmed S, Polonsky KS, Larsen PR, eds. Williams Textbook of Endocrinology. 11th ed. Philadelphia, Pa: Saunders Elsevier; 2008:chap 36.

Semenkovich CF. Disorders of lipid metabolism. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 217.

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