DECREASED ERYTHROCYTE DEFORMABILITY IN GLYCOGEN-STORAGE-DISEASE

Liver glycogen storage diseases (GSD) are disorders associated with se vere dyslipidaemia which can induce cell membrane alterations and poss ibly reduced cell deformability. Since decreased erythrocyte deformabi lity is known to disturb blood flow in capillaries and may promote isc haemic diseases, this study was designed to investigate erythrocyte de formability using a new filtration system, the Cell Transit Analyser ( CTA), and to examine lipid compounds in the blood of 23 patients affec ted with GSD, aged from 1 to 20 years and 18 controls aged from 1 to 1 7 years. The patients showed a mixed hyperlipidaemia with predominent hypertriglyceridaemia and an increase in erythrocytes mean transit tim es (TT) due to the presence of more rigid erythrocytes subpopulations when compared to controls. Thus the erythrocyte rigidity, in addition to the lipid abnormalities must be taken into account for long-term ev olution of GSD patients. Moreover this cellular alteration may contrib ute to shortened erythrocyte survival.