An incomplete form of familial lipoprotein lipase deficiency presenting with type I hyperlipoproteinemia.
The author reports the case of a patient with an incomplete form of familial lipoprotein lipase deficiency associated with type I hyperlipoproteinemia manifesting an autosomal recessive pattern of inheritance. The patient presented with hepatosplenomegaly, abdominal pain, and fasting chylomicronemia. A Western diet elicited a steep increase in plasma triglyceride concentration and the appearance of floating chylomicrons over a clear infranatant in fasting plasma. Postheparin lipoprotein lipase activity was moderately reduced to 38% of control values. Adipose tissue lipoprotein lipase activity was 10% of normal, whereas his muscle enzyme activity was within the reference range. Two-dimensional electrophoresis of plasma apolipoproteins revealed the presence of normal activator (apolipoprotein C-II). These results confirm the importance of the adipose tissue enzyme for the clearance of diet-derived plasma triglycerides.
D000273:Adipose Tissue / Q000201:enzymology; D000293:Adolescent; D053302:Apolipoprotein C-I; D001056:Apolipoproteins C / Q000032:analysis; D004041:Dietary Fats / Q000008:administration & dosage; D005808:Genes, Recessive; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000178:diet therapy / Q000201:enzymology / Q000235:genetics*; D006951:Hyperlipoproteinemias / Q000235:genetics*; D007527:Isoenzymes / Q000172:deficiency; D008071:Lipoprotein Lipase / Q000172:deficiency*; D008297:Male; D009132:Muscles / Q000201:enzymology; D009928:Organ Specificity; D010375:Pedigree
D053302:Apolipoprotein C-I; D001056:Apolipoproteins C; D004041:Dietary Fats; D007527:Isoenzymes; D008071:Lipoprotein Lipase