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Diseases

Genetic and Rare Diseases Information Center (GARD)

Norum disease


Other Names for this Disease
  • Lecithin cholesterol acyltransferase deficiency
  • LCAT deficiency
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Treatment

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How might Norum disease be treated?

Symptomatic treatment for anemia, renal insufficiency, and atherosclerosis is indicated.[1]

  • LCAT gene therapy or liver transplantation theoretically would be a treatment of choice to correct the underlying pathophysiology, but neither procedure has been reported.
  • Short-term whole blood or plasma transfusion has been tried to replace the LCAT enzyme in some patients with familial LCAT deficiency, but it did not correct anemia, proteinuria, or lipoprotein abnormalities.
  • Renal replacement by dialysis is necessary in those individuals who develop kidney failure.
  • Kidney transplantation is indicated in patients with familial LCAT deficiency and renal failure.
  • Corneal transplantation is indicated in patients with corneal opacities with severely reduced vision.
  • Restriction of fat intake may be advisable in patients with familial LCAT deficiency, but no evidence supports its potential benefits.
  • Because of the small but measurable risk of atherosclerosis in persons with LCAT deficiency, exercise, under the guidance of a physician, theoretically would have a role in prevention of this complication.
Last updated: 9/8/2009

References
  1. Raghavan VA, Khovidhunkit. Lecithin-Cholesterol Acyltransferase Deficiency: Treatment & Medication. eMedicine. 2007; http://emedicine.medscape.com/article/122958-treatment. Accessed 9/8/2009.


Other Names for this Disease
  • Lecithin cholesterol acyltransferase deficiency
  • LCAT deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.