Marked atherosclerosis in a patient with familiar lecithin : cholesterol acyltransferase deficiency associated with end-stage renal disease and diabetes mellitus

Familial lecithin:cholesterol acyltransferase (LCAT) deficiency is a rare g enetic disorder of the lipid metabolism caused by the absence of LCAT activ ity in plasma. It is not generally accompanied by atherosclerosis in spite of low high-density lipoprotein cholesterol levels nor by diabetes mellitus . However, reports of long-term followup or autopsy findings are rare, and the true incidence of atherosclerosis in LCAT deficiency is not clear. We r eport on the long-term observation of a patient with familial LCAT deficien cy who developed renal failure, diabetes mellitus, and marked atheroscleros is. The patient died of sepsis from foot ulcers 7 years after starting hemo dialysis and 13 years after the diagnosis. Marked atherosclerosis character ized by medial calcification in small arteries was observed at autopsy. The genesis of the atherosclerosis seemed to be on the basis of a combination of factors. Copyright (C) 2001 S. Karger AG, Basel.