Lecithin Cholesterol Acyl Transferase (LCAT) is the enzyme that allows the maturation of HDL by esterification of free cholesterol to HDL. Cholesterol effluxes from cells as free cholesterol and is transported as mature HDL.Familial LCAT deficiency does not allow for HDL maturation resulting in its rapid catabolism of circulating apoA-1 and apoA-2. LCAT deficiency causes accumulation of unesterified cholesterol in some body tissues. About 30 families, accounting for at least 60 patients, with familial LCAT deficiency have been reported worldwide
Patients with partial LCAT deficiency may present with anemia and hepatosplenomegaly (main finding) . Other clinical manifestations are renal insufficiency and the characteristic corneal opacities (fish eye disease) .Familial LCAT deficiency and fish eye disease are associated with a modest increase in the risk for premature atherosclerosis
Renal transplantation has been reported to be successful in some patients with familial LCAT deficiency, but it does not reverse the serum lipoprotein abnormalities or correct the anemia associated with this condition.
Familiat LCAT deficiency is a very rare disease and a detailed analysis of ethnicity is difficult.. Most of the reports are from western and northern Europe, but series have also been received from Japan, Algeria, and Australia