Family lack lecithin - cholesterol acyltransferase ( LCAT )

August 12, 2017 17:51 | Genetic Diseases

syndrome is characterized by corneal opacities, anemia, proteinuria (protein in the urine), a significant reduction in cholesterol esters and lecithin in the blood serum.For the first time this pathology was found in 1966 in a woman, received the survey for chronic nephritis.By 1987, worldwide described 18 families with a total of 35 patients with disease is inherited in an autosomal recessive manner.

Proteinuria (protein in the urine) is the earliest sign of disease.Furthermore the protein (mainly albumin) in urine are detected and erythrocytes hyaline cylinders.In biopsies of kidney tissue detected "foamy" cells.Moderately severe anemia and clouding of the cornea is usually detected at a mature age (after 30 years).Clusters of small point infiltrates merge to form a kind of arc in the pupillary area of ​​the cornea.The defeat of the cornea, kidneys and red blood cells is associated with the accumulation of unesterified cholesterol in the tissues.The increased plasma total cholesterol.The normal plasma

cholesterol esters is approximately 60-70% of the total.There have been changes in the spectrum of plasma lipoproteins (lack of high-density lipoprotein).Increased content of free lecithin and cholesterol in erythrocyte membranes, whereby they can take the contours of the target.In the study of bone marrow tissue found "foamy" cells.However, unlike other diseases accumulation at deficiency Lecithin-cholesterol acyltransferase is not enlarged lymph nodes, liver and spleen dimensions remain within the normal range.The enzyme lecithin-cholesterol-acyltransferase is synthesized in the liver and enters the blood, which carries out the transfer of fatty acid from lecithin to free cholesterol.With the help of lecithin-cholesterol acyltransferase exchanged phospholipids and cholesterol, which is essential for the life of the blood cells and tissues.Low activity of lecithin-cholesterol acyltransferase-established by incubating plasma of patients at a temperature of 37 ° C for several hours.In healthy persons with increased cholesterol esters and lecithin.Patients with this disease lipid profile was not altered.

deficit of lecithin-cholesterol acyltransferase leads eventually to the development of chronic renal failure and atherosclerotic changes in vessels.With a significant decrease in the level of albumin (protein) in blood plasma, the formation of edema syndrome.Methods of treatment not yet been developed, however, periodic transfusions (transfusions) of donor plasma allow to correct lipid metabolism.