Preliminary report on a case of apolipoproteins CI and CII deficiency.
A combined deficiency of Apo C-I and C-II assessed by mono and bidimensional electrophoresis as well as immunoelectrophoresis is described. It was discovered after a 'check up' in a 70-yr-old woman consulting for a vertebral pain. Lipoprotein disorders correspond to a particular form of Fredrickson's type V. They consisted of types I and IV, with decreased HDL of low electrophoretic mobility, increased VLDL of high electrophoretic mobility, and without LDL. A decrease of Apo A-I, A-II, B and C-III was observed. Data correspond for the most part with all those actually known to characterize Apo C-II deficiency. HDL3 predominance in decreased HDL fraction and strongly decreased CE/TC ratio could be dependent of Apo C-I deficiency. The association of these two apolipoprotein deficiencies, the genes of which are located on chromosome 19, suggest a common defect on the pathway of their biosynthesis possibly located at the gene level. In spite of these numerous anomalies, the affection appears well tolerated.
D000368:Aged; D053302:Apolipoprotein C-I; D053304:Apolipoprotein C-II; D001056:Apolipoproteins C / Q000172:deficiency*; D002784:Cholesterol / Q000097:blood; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D006801:Humans; D007122:Immunoelectrophoresis; D008066:Lipolysis; D008074:Lipoproteins / Q000097:blood
D053302:Apolipoprotein C-I; D053304:Apolipoprotein C-II; D001056:Apolipoproteins C; D008074:Lipoproteins; D002784:Cholesterol