AJKD Atlas of Renal Pathology: Lecithin–Cholesterol Acyltransferase (LCAT) Deficiency

Lecithin–cholesterol acyltransferase (LCAT) deficiency is a rare (prevalence <1:1,000,000) autosomal recessive disease. Clinical features include corneal opacities, normochromic normocytic anemia, and proteinuria. Multiple lipoprotein abnormalities are present (see Etiology/Pathogenesis below). Corneal opacities are observed from early childhood. Renal involvement is a major cause of morbidity and mortality, starts with proteinuria in childhood, and progresses to ESRD by the 4th or 5th decade. The clinical manifestations may differ markedly depending on which of over 90 mutations are present in the LCAT gene on chromosome 16q22.

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