Lecithin-cholesterol acyltransferase deficiency: first report of case in a United States citizen

Lecithin-cholesterol acyltransferase is responsible for the formation of most cholesteryl esters in plasma. Absence of this enzyme can result in a rare syndrome that includes diffuse corneal opacities, normocytic normochromic anemia, proteinuria, renal failure, and premature arteriosclerosis. The deficiency can be inherited in an autosomal recessive manner, or it can be acquired through liver disease. Diagnosis requires a high index of suspicion and documentation of impairment of enzyme mass or activity (or both). This article includes a case report of the first United States citizen known to have lecithin-cholesterol acyltransferase deficiency. The authors review the literature related to this disease.