Abstract
A woman with primary lipoprotein lipase (LPL) deficiency developed marked hypertriglyceridemia, pancreatitis, eruptive xanthomas, and unusual palmar xanthomas during pregnancy. Hypotheses to account for the palmar xanthomas were that oxidative modification of triglyceride (TG)-rich lipoproteins occurred due to increased plasma residence time, or that their apolipoprotein E (apoE) content was abnormally elevated. Indices of oxidation of her TG-rich lipoproteins did not support the hypothesis that oxidative changes were a causative factor for her xanthomata. However, degradation of her TG-rich lipoproteins by macrophages was markedly increased (1844 ng/mg protein) during pregnancy as compared to hypertriglyceridemic (with normal LPL) and normotriglyceridemic controls (352 and 126 ng/mg protein, respectively). Post pregnancy the degradation of the subject's TG-rich lipoproteins fell to 289 ng/mg protein. Compositional analysis showed significant enrichment of the particles with apoE (0.97 mass ratio of apoE:apoB during pregnancy, in contrast to 0.38 for normolipidemic controls), and was correlated with the rate of degradation of the TG-rich lipoproteins. Thus, the increased uptake of the TG-rich lipoproteins by macrophages appears to be the result of an unusual enrichment of these lipoproteins with apoE.
Highlights
A woman with primary lipoprotein lipase (LPL) deficiency developed marked hypertriglyceridemia,pancreatitis, eruptive xanthomas, and unusual palmar xanthomas during pregnancy
thiobarbituric acid-reacting substances (TBARS) values for the remaining hypertriglyceridemic subject and normolipidemic control were higher than the LPL-deficient subject (5.6 and 5.9 nmol MDA/mg protein, respectively).When the TBARSassay was based on 300 pg TG, the values were similar at all time points
The appearances of palmar xanthomata in a pregnant subject with primary LPL deficiency is unusual, as palmar xanthomata usually occur when remnants of the TG-rich lipoproteins (TG-rich lipoproteins from which TGs have been partially hydrolyzed by LPL) accumulate in plasma
Summary
A woman with primary lipoprotein lipase (LPL) deficiency developed marked hypertriglyceridemia,pancreatitis, eruptive xanthomas, and unusual palmar xanthomas during pregnancy. In this report we describe a woman with primary LPL deficiency who developed a severe exacerbation of her hypertriglyceridemia, with resulting pancreatitis, eruptive xanthomas, and unusual palmar xanthomas during the course of her first pregnancy. Palmar xanthomas have been considered to be pathognomonic for remnant removal disease (type 111hyperlipoproteinemia) [9] and can be seen in primary biliary cirrhosis [10] This type of xanthoma is believed to result from uptake of remnants of the triglyceride (TG)-rich lipoproteins by macrophages in the skin creases. Chdesterol; TG, triglyceride; Study 1, comparison with primary LPMeficient subject during pregnancy;Study 2, comparisonwith primary LPLdeficientsubject p o s t pregnancy
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