Familial Lecithin: Cholesterol Acyltransferase Deficiency: Ultrastructural Studies on Lipid Deposition and Tissue Reactions

Abstract

Ultrastructural observations of biopsy material from three patients with LCAT deficiency revealed characteristic deposition of membranes and membrane-bound vesicles or particles in the kidneys, spleen, liver, aorta, and muscular arteries. The deposited material, which it is suggested is composed of phospholipids and cholesterol, was in the kidneys observed especially in the glomeruli, both within the capillary lumina, the capillary wall, and in mesangial regions. In the liver it was noted especially in perivascular regions. Phagocytic cells in the spleen and Kuppfer cells of the liver contained numerous granules often composed of membranes, or vacuoles surrounded by layered membranes. It is suggested that the reticuloendothelial system may take up pathological lipoproteins, resulting in abnormal storage of lipids. Furthermore, filtration of the lipoproteins into the vessel wall may occur, and vascular damage may be a part of the LCAT-deficiency syndrome.

Key Words:

• LCAT deficiency
• lipid deposition
• renal lesions
• renal transplantation
• ultrastructure