Other Names for this Disease
- Lecithin cholesterol acyltransferase deficiency
- LCAT deficiency
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Symptomatic treatment for anemia, renal insufficiency, and atherosclerosis is indicated.
- 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
- Raghavan VA, Khovidhunkit. Lecithin-Cholesterol Acyltransferase Deficiency: Treatment & Medication. eMedicine. 2007; http://emedicine.medscape.com/article/122958-treatment. Accessed 9/8/2009.