COMPLEX FUNCTIONAL AND STRUCTURAL COAGULATION ABNORMALITIES IN THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I

Carbohydrate-deficient glycoprotein (CDG) syndrome type I is an autoso mal recessive disease with multisystemic manifestations. During childh ood the patients may suffer from hemorrhages, which may be lethal, ven ous thromboses and stroke-like Episodes. In this study 15 patients wit h CDG syndrome type I were examined for the levels and isoform pattern s of coagulation factors and inhibitors and fibrinolysis parameters. T he screening assays APTT and PTC were unaffected in most cases. In spi te of this reduced levels were found particularly for factors II, V, X and XI and for antithrombin and protein C. Low values tended to he as sociated with elevated liver enzyme levels in serum. The values were a t potential clinical risk levels for protein C and/or antithrombin in more than half of the patients, and for factor V and/or factor XI in o ne third of them. There were no current differences in values between patients who had previously displaced clinical symptoms of coagulation disturbance and those without such symptoms. Partially carbohydrate-d eficient isoforms were demonstrated in antithrombin, protein C, protei n S and in alpha(2)-antiplasmin, but not in factors II, X and fibrinog en. Abnormal isoforms did not appear to reduce the functional activity of the respective glycoproteins. Analysis of individual hemostatic pa rameters is recommended in these patients in connection with clinical symptoms or elective surgery. The observed variability of the carbohyd rate defect in glycoproteins in this disease may be a clue to its path ogenesis.