Complex functional and structural coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome type I

Blood Coagul Fibrinolysis. 1996 Mar;7(2):118-26. doi: 10.1097/00001721-199603000-00003.

Abstract

Carbohydrate-deficient glycoprotein (CDG) syndrome type I is an autosomal recessive disease with multisystemic manifestations. During childhood the patients may suffer from hemorrhages, which may be lethal, venous thromboses and stroke-like episodes. In this study 15 patients with CDG syndrome type I were examined from the levels and isoform patterns of coagulation factors and inhibitors and fibrinolysis parameters. The screening assays APTT and PTC were unaffected in most cases. In spite of this reduced levels were found particularly for factors II, V, X and XI and for antithrombin and protein C. Low values tended to be associated with elevated liver enzyme levels in serum. The values were at 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 one third of them. There were no current differences in values between patients who had previously displayed clinical symptoms of coagulation disturbance and those without such symptoms. Partially carbohydrate-deficient isoforms were demonstrated in antithrombin, protein C, protein S and in alpha 2-antiplasmin, but not in factors II, X and fibrinogen. Abnormal isoforms did not appear to reduce the functional activity of the respective glycoproteins. Analysis of individual hemostatic parameters is recommended in these patients in connection with clinical symptoms or elective surgery. The observed variability of the carbohydrate defect in glycoproteins in this disease may be a clue to its pathogenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aging
  • Alanine Transaminase / blood
  • Aspartate Aminotransferases / blood
  • Blood Coagulation Factors / chemistry
  • Blood Coagulation*
  • Blotting, Western
  • Carbohydrates / chemistry
  • Child
  • Child, Preschool
  • Congenital Disorders of Glycosylation / blood*
  • Female
  • Humans
  • Infant
  • Isoelectric Focusing
  • Liver / enzymology
  • Male
  • Middle Aged
  • Partial Thromboplastin Time
  • Platelet Count

Substances

  • Blood Coagulation Factors
  • Carbohydrates
  • Aspartate Aminotransferases
  • Alanine Transaminase