Which lab findings are characteristic of partial lecithin-cholesterol acyltransferase (LCAT) deficiency (fish eye disease?

Updated: Oct 16, 2019
  • Author: Catherine Anastasopoulou, MD, PhD, FACE; Chief Editor: George T Griffing, MD  more...
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Answer

Answer

Lab findings in fish eye disease include the following:

  • No anemia upon CBC count

  • No proteinuria upon urinalysis

  • No laboratory evidence of renal insufficiency

  • Lipid Panel - Low HDL-C (10% of normal), elevated VLDL and triglyceride levels, elevated unesterified cholesterol in HDL, low cholesterol ester in HDL but normal in LDL and VLDL

  • Negligible LCAT activity in HDL

  • Normal plasma cholesterol esterification rate

  • Failure of plasma to esterify radioactive cholesterol in exogenous lipoproteins or HDL, but not in LDL


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