Article

Case Report

Korean J Clin Pathol 2001; 21(4): 269-273

Published online August 1, 2001

Copyright © Korean Society for Laboratory Medicine.

Type III Hyperlipoproteinemia Associated with Generalized Tuberoeruptive Xanthomas

임현, 김달식

Abstract

Background :A 61-year-old female patient presented with the type III hyperlipoproteinemia (HLP) in association with generalized eruptive and tuberous xanthomas. She had hypercholesterolemia and hypertriglyceridemia, and extensive coronary atherosclerosis. Further studies revealed a positive standing plasma test, abnormal beta-very low density lipoprotein (VLDL) on lipoprotein electrophoresis, markedly elevated very low density lipoprotein-cholesterol (VLDL-C) to plasma triglycerides (TG) ratio (0.86) and homozygosity for apolipoprotein E2. After about one year of therapy with lipid-lowering agents and diet restriction, a significant reduction of serum cholesterol and TG was observed and the yellowish orange discolorations of palmar creases disappeared from her palms. Method :A 61-year-old female patient presented with the type III hyperlipoproteinemia (HLP) in association with generalized eruptive and tuberous xanthomas. She had hypercholesterolemia and hypertriglyceridemia, and extensive coronary atherosclerosis. Further studies revealed a positive standing plasma test, abnormal beta-very low density lipoprotein (VLDL) on lipoprotein electrophoresis, markedly elevated very low density lipoprotein-cholesterol (VLDL-C) to plasma triglycerides (TG) ratio (0.86) and homozygosity for apolipoprotein E2. After about one year of therapy with lipid-lowering agents and diet restriction, a significant reduction of serum cholesterol and TG was observed and the yellowish orange discolorations of palmar creases disappeared from her palms. Result :A 61-year-old female patient presented with the type III hyperlipoproteinemia (HLP) in association with generalized eruptive and tuberous xanthomas. She had hypercholesterolemia and hypertriglyceridemia, and extensive coronary atherosclerosis. Further studies revealed a positive standing plasma test, abnormal beta-very low density lipoprotein (VLDL) on lipoprotein electrophoresis, markedly elevated very low density lipoprotein-cholesterol (VLDL-C) to plasma triglycerides (TG) ratio (0.86) and homozygosity for apolipoprotein E2. After about one year of therapy with lipid-lowering agents and diet restriction, a significant reduction of serum cholesterol and TG was observed and the yellowish orange discolorations of palmar creases disappeared from her palms. Conclusion :A 61-year-old female patient presented with the type III hyperlipoproteinemia (HLP) in association with generalized eruptive and tuberous xanthomas. She had hypercholesterolemia and hypertriglyceridemia, and extensive coronary atherosclerosis. Further studies revealed a positive standing plasma test, abnormal beta-very low density lipoprotein (VLDL) on lipoprotein electrophoresis, markedly elevated very low density lipoprotein-cholesterol (VLDL-C) to plasma triglycerides (TG) ratio (0.86) and homozygosity for apolipoprotein E2. After about one year of therapy with lipid-lowering agents and diet restriction, a significant reduction of serum cholesterol and TG was observed and the yellowish orange discolorations of palmar creases disappeared from her palms.

Keywords: Type III hyperlipoproteinemia, Apolipoprotein E, apo e2/e2, Xanthoma