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Familial lipoprotein lipase deficiency - Overview

Alternative Names

Type I hyperlipoproteinemia; Familial chylomicronemia

Definition of Familial lipoprotein lipase deficiency:

Familial lipoprotein lipase deficiency is a group of rare genetic disorders in which a person lacks a protein needed to break down fat molecules. The disorder causes large amounts of fat to build up in the blood.

Causes, incidence, and risk factors:

Familial lipoprotein lipase deficiency is usually caused by a defective gene that is passed down through families.

Persons with this condition lack an enzyme called lipoprotein lipase. Without this enzyme, the body cannot break down fat from digested food. Fat particles called chylomicrons build up in the blood.

Risk factors include a family history of lipoprotein lipase deficiency.

The disorder affects about 1 out of 1,000,000 people. The condition is usually first seen during infancy or childhood.

  • 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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