A 28-year-old man has the following symptoms: diffuse grayish corneal opacities, anemia, proteinuria, and hyperlipemia. His renal function is compromised and serum albumin level is elevated. Plasma triglycerides and unesterified cholesterol levels are elevated, as are levels of phosphatidylcholine. These symptoms are indicative of which of the following lipoprotein-associated disorder?

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Quizplus · Accepted Answer

The symptoms described, including corneal opacities, anemia, proteinuria, and elevated lipid levels, are characteristic of familial lecithin-cholesterol acyltransferase (LCAT) deficiency. This disorder leads to impaired cholesterol esterification, resulting in the accumulation of unesterified cholesterol and phosphatidylcholine, causing the observed symptoms.  Familial LCAT deficiency is also called fish eye disease or Norum disease. This hyperlipoproteinemia is associated with diffuse corneal opacities, renal failure with proteinuria, and decreased levels of plasma cholesterol esters with associated accumulation of unesterified cholesterol in many tissues. In addition, the serum contains abnormal LDL (Lp-X) and VLDL.

A 28-Year-Old Man Has the Following Symptoms: Diffuse Grayish Corneal