Familial Lecithin: Cholesterol Acyltransferase Deficiency — A Clinical Survey

Abstract

A survey is given on familial lecithin: cholesterol acyltransferase (LCAT) deficiency with particular emphasis on the clinical features. Four Scandinavian families with 9 afflicted members are known. The disease is clinically characterized by diffuse corneal opacities, normochrome anemia with decreased red cell life span, and proteinuria in all but one, and renal insufficiency in three. Foam cells are found in bone marrow and kidney glomer-uli and ‘Sea-blue histiocytes’ are seen in bone marrow and spleen. Plasma is seen to be turbid in most patients. A variety of plasma lipid and lipoprotein changes secondary to LCAT deficiency occur. Three subfractions of LDL are regularly found, including a large molecular weight LDL and a subfraction chemical and immunological like LP-X. All known apolipoproteins have been detected, but apo A, B, and D are quantitatively reduced. Atherosclerosis may develop even if plasma cholesteryl ester and apolipoprotein B levels are low. An association possibly exists between the large molecular weight LDL in plasma and the nephropathy. Most likely the LCAT locus is situated at chromosome no. 16.

Key Words:

• Cholesterol
• chromosomes
• lecithin
• cholesterol acyltransferase
• lipid metabolism
• inborn errors
• phospholipids