Lecithin-Cholesterol Acyl Transferase Deficiency

Lecithin-Cholesterol Acyl Transferase Deficiency

Ami Bhalodia, MD

Lipids deposited in LCAT deficiency are extracted by solvents employed in tissue processing. This results in a vacuolated appearance to the mesangial matrix image and capillary loop basement membranes.

This electron micrograph shows the characteristic lipid deposits with a vacuolar appearance within the mesangial matrix. The accumulated material imparts a “honeycomb” appearance to the mesangium.



  • Lecithin-cholesterol acyltransferase (LCAT) deficiency


  • Phosphatidylcholine-sterol o-acyltransferase deficiency


  • Diseases caused by complete or partial LCAT deficiency

    • Familial LCAT deficiency (FLD)

    • Fish eye disease (FED)


Genetic Disorder

  • Autosomal recessive

  • Mutation of LCAT gene on chromosome 16q22

    • More than 36 mutations described

  • Defect in LCAT-mediated cholesterol ester formation

  • Failure to secrete active LCAT into plasma

    • Accumulation of unesterified cholesterol in cornea, kidneys, and erythrocytes

  • LCAT normally carried in high-density lipoproteins (HDL) with ApoA1

    • Decreased HDL

  • Increased free cholesterol-phospholipid vesicles (LpX)

Animal Model

  • Murine LCAT deficiency (increased LpX)



  • Incidence

    • Rare cases reported worldwide

      • 60 with complete LCAT deficiency

      • 20 with partial LCAT deficiency

  • Ethnicity

    • Initially reported in Norway

      • Now appears widely distributed


  • Complete LCAT deficiency

    • Familial LCAT deficiency

    • Corneal cataracts

    • Hemolytic anemia

    • Renal insufficiency by 4th decade

      • Proteinuria may begin in childhood

      • Progression of renal disease is variable

    • Atherosclerosis in rare cases

    • Hypertension

  • Partial LCAT deficiency

    • Fish eye disease

    • Corneal opacities

      • Resemble eyes of a boiled fish

    • No overt renal disease

Laboratory Tests

  • Reduced plasma total cholesterol

  • Decreased HDL

  • Low LCAT activity in plasma

  • Urinalysis shows hematuria, leukocyturia, and casts


  • Medical treatment for anemia, renal insufficiency, and atherosclerosis

  • Renal failure

    • Dialysis

    • Renal transplantation

  • Corneal transplantation


  • Renal transplantation

    • Moderately successful

    • Does not reverse serum lipoprotein abnormalities

    • Mesangial lipid deposits recur within weeks

      • Do not initially impair renal function


Histologic Features

Jul 7, 2016 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Lecithin-Cholesterol Acyl Transferase Deficiency
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