Which lab findings are characteristic of familial (complete) lecithin-cholesterol acyltransferase (LCAT) deficiency?

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 familial LCAT deficiency include the following:

  • Complete blood count (CBC) - Normochromic normocytic anemia with anisopoikilocytosis, target cells, stomatocytes, and hematologic evidence of hemolysis may be present

  • Urinalysis - Proteinuria is commonly detected during the second or third decade of life; less common findings include hyaline and granular casts and red blood cells.

  • Progressive renal insufficiency - Occurs in some patients; laboratory evidence for progressive renal insufficiency includes increased plasma blood urea nitrogen (BUN), increased plasma creatinine, and decreased creatinine clearance

  • Lipid Panel - Low HDL-C levels (generally < 10mg/dL), elevated very low-density lipoprotein (VLDL) and triglyceride levels, high concentrations of plasma unesterified cholesterol, low concentrations of plasma cholesterol ester

  • Negligible plasma LCAT activity - Plasma fails to esterify radioactive cholesterol in exogenous apo A-I–containing liposomes.

  • Negligible plasma cholesterol esterification rate - Plasma fails to esterify radioactive cholesterol in endogenous lipoproteins.


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