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Chylomicronemia syndrome - Symptom

Alternative Names

Familial lipoprotein lipase deficiency

Symptoms:

Symptoms may start in infancy and include:

  • Abdominal pain due to pancreatitis (inflammation of the pancreas)
  • Deposits of slightly discolored tissue on the eyelids

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 layer of cream due to chylomicrons will appear when blood spins in a laboratory machine. The triglyceride level is extremely high.

  • Reviewed last on: 1/23/2008
  • Glenn Gandelman, MD, MPH, Assistant Clinical Professor of Medicine, New York Medical College, Valhalla, NY. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Benlian P, De Gennes JL, Foubert L, Zhang H, Gagne SE, Hayden M. Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene. N Engl J Med. 1997;336(14):1026-1027.