What is the Inherited Lecithin-Cholesterol-Acyltransferase Activity Deficit?
The hereditary deficiency of lecithin-cholesterol-acyltransferase activity is a recessively inherited defect, which was first described in 1967. In addition to hemolytic anemia, patients have a violation of cornea transparency, proteinuria.
Causes of Inherited Lecithin-Cholesterol-Acyltransferase Activity Deficit
The basis of hemolytic anemia is the accumulation of cholesterol on the surface of erythrocytes, as well as the violation of the renewal of erythrocyte membrane phospholipids.
Diagnosis of Hereditary Lecithin-Cholesterol-Acyltransferase Activity Deficit
The amount of total cholesterol, phospholipids and triglycerides is increased in plasma. Due to a decrease in the activity of the enzyme lecithin-cholesterol-acyltransferase, the formation of cholesterol ester and lysolecithin from lecithin is disturbed.
Treatment of Inherited Lecithin-Cholesterol-Acyltransferase Activity Deficit
Hemoglobin and red blood cells in patients are close to normal, and, as a rule, they do not need treatment.