GENETIC, BIOCHEMICAL AND CLINICAL FEATURES OF LCAT DEFICIENCY IN ITALY

The lecithin: cholesterol acyltransferase (LCAT) enzyme is responsible for the esterification of all cholesterol in plasma. Defects in the gene coding for this protein cause the total or partial inability of the enzyme to esterify cholesterol, thus leading to two different diseases: familial LCAT deficiency (FLD), and fish-eye disease (FED). While in normal subjects about 70% of plasma cholesterol is esterified, in subjects with FLD almost all the cholesterol is in the non esterified form and tends to accumulate into tissues. Patients with FLD early develop severe renal disease, which may lead to renal transplantation. Patients with FED present with a typical corneal opacity (which gives the name to the disease), but do not seem to develop renal failure. Patients with both diseases present with alteration in plasma lipid levels, with a marked reduction of HDL cholesterol (the good cholesterol) which could lead to an increased risk of cardiovascular disease. The project presented to Telethon by our group will help in defining the prevalence of clinical manifestations in these two diseases with the aim of developing a therapeutic intervention today not available.