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Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type I
A Fiumara1, R Barone, P Buttitta
1Department of Paediatrics, University of Catania, Italy.
Insights
Congenital Disorders of Glycosylation type I (CDGS I) patients show decreased clotting factors and inhibitors, alongside elevated D-dimer levels. This may explain the increased stroke risk observed in CDGS I.
Area of Science:
- Biochemistry
- Hematology
- Genetics
Background:
- Congenital Disorders of Glycosylation type I (CDGS I) are metabolic disorders affecting glycoprotein synthesis.
- Patients with CDGS I often exhibit reduced plasma glycoproteins, including clotting factors and inhibitors.
- Stroke-like episodes are a common clinical manifestation in approximately half of CDGS I patients.
Observation:
- This study investigated blood coagulation factors, inhibitors, and D-dimer levels in four CDGS I patients (aged 12-23).
- Measurements included Factors VIII, XI, antithrombin III (activity and antigen), free protein S, and protein C (activity and antigen).
- D-dimer plasma concentrations were assessed in all participants.
Findings:
- CDGS I patients displayed decreased levels of Factors VIII, XI, antithrombin III, free protein S, and protein C antigen.
- Protein C activity was normal, but some patients also showed reduced Factors II, V, VII, IX, and X, indicating phenotypic heterogeneity.
- All subjects presented with elevated D-dimer plasma concentrations.
Implications:
- The observed deficiencies in coagulation inhibitors, coupled with elevated D-dimer, suggest a hypercoagulable state in CDGS I.
- This hypercoagulability may be a contributing factor to the stroke-like episodes seen in CDGS I patients.
- Further research into the prothrombotic mechanisms in CDGS I is warranted to guide therapeutic strategies.
Abstract:
CDG syndrome (CDGS) type I is the most frequent form of a group of metabolic disorders characterised by a defect of the carbohydrate moiety of glycoproteins. A large number of plasma glycoproteins, including clotting factors and inhibitors, are decreased and stroke-like episodes have been described in about half of the reported patients. We studied blood coagulation factors, inhibitors and D-dimer plasma levels in four subjects, aged 12-23 years, with CDGS type I. Factors VIII, XI, antithrombin III activity, antigen plasma levels of antithrombin III, free protein S and protein C were decreased whereas protein C as activity was normal. In addition two patients had reduction of factors II, V, VII, IX, X reflecting the phenotypic heterogeneity associated with CDGS type I. D-dimer plasma concentrations were elevated in all subjects. The hypercoagulable state as consequence of the combined deficiencies of coagulation inhibitors could contribute to the stroke-like phenomena in CDGS type I.