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Familial lipoprotein lipase deficiency - Symptom

Alternative Names

Type I hyperlipoproteinemia; Familial chylomicronemia

Symptoms:

  • Abdominal pain (may appear as colic in infancy)
  • Loss of appetite
  • Nausea
  • Pain in the muscles and bones (musculoskeletal pain)
  • Vomiting

Signs and tests:

Signs of this condition include:

  • Enlarged liver
  • Failure to thrive in infancy
  • Fatty deposits in the skin (xanthomas)
  • High triglyceride levels in the blood
  • Pale retinas and white-colored blood vessels in the retinas
  • Pancreatitis that keeps returning
  • Yellowing of the eyes and skin (jaundice)

Blood tests will be done to check cholesterol and triglyceride levels. Rarely, a special blood test may be done after you are given blood thinners through a vein. This test looks for lipoprotein lipase activity in your blood.

Genetic tests may be done, including one for apolipoprotein CII deficiency.

  • Reviewed last on: 5/29/2011
  • David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Gennest J, Libby P. Lipoprotein disorders and cardiovascular disease. In: Bonow RO, Mann DL, Zipes DP, Libby P, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 9th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 47.

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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