Chylomicronemia syndrome - Symptom
Familial lipoprotein lipase deficiency
Symptoms may start in infancy and include:
- Abdominal pain due to pancreatitis (inflammation of the pancreas)
- 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 extensor surfaces of the knees and elbows
Signs and tests:
Examination and tests may show an enlarged liver and spleen, inflammation of the pancreas, fatty deposits under the skin, and possibly deposits in the retina of the eye.
A creamy layer due to chylomicrons in the blood will appear when blood spins in a laboratory machine.
The triglyceride level is extremely high.
- 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.
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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