Thromb Haemost 1996; 76(04): 502-504
DOI: 10.1055/s-0038-1650611
Original Article
Schattauer GmbH Stuttgart

Haemostatic Studies in Carbohydrate-deficient Glycoprotein Syndrome Type I

A Fiumara
Department of Paediatrics, University of Catania, Italy
,
R Barone
Department of Paediatrics, University of Catania, Italy
,
P Buttitta
1   The Department of Neonatology, G. Cristina Hospital, Palermo, Italy
,
R Musso
2   Department of Hematology, Hemophilia Section, University of Catania, Italy
,
L Pavone
Department of Paediatrics, University of Catania, Italy
,
F Nigro
Department of Paediatrics, University of Catania, Italy
,
J Jaeken
3   Department of Paediatrics, University of Leuven, Belgium
› Author Affiliations
Further Information

Publication History

Received 06 October 1992

Accepted after resubmission 28 June 1996

Publication Date:
10 July 2018 (online)

Summary

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.

 
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