Is primary hemostasis involved in bleeding diathesis in patients with type 1 glycogen storage disease?

OBJECTIVES

Glycogen storage disease type I (GSD-I) is a metabolic disease associated with a bleeding tendency. Although decreased von Willebrand factor (VWF) and/or impaired platelet function have been reported in this condition, no direct link with bleeding has been demonstrated. The aim of this retrospective study was to assess the correlation between primary hemostasis abnormalities and haemorrhagic diathesis in a cohort of 19 GSD-I patients.

METHODS

A Standardized International Society of Thrombosis and Hemostasis Bleeding Assessment Tool (ISTH-BAT) score was calculated for all patients to assess their bleeding history. Primary hemostasis was investigated by platelet closure time, VWF activity and antigen levels, and platelet aggregation.

RESULTS

Seven of the 19 patients (37 %) had a positive ISTH-BAT score for age. Bleeding symptoms were essentially mucocutaneous. Thirteen patients (76 %) had a prolonged closure time with no significant difference whether ISTH-BAT was positive (ISTH-BATpos group) or negative (ISTH-BATneg group) (p = 0.60). Two patients in the ISTH-BATpos group had a moderate decrease in VWF levels. However, no statistical difference was observed between ISTH-BATpos and ISTH-BATneg groups regarding VWF activity (p = 0.40) or antigen (p = 0.82) levels either. Four patients had defective platelet aggregation, mainly in response to ADP agonist, with no significant difference between the two groups (p = 0.12).

CONCLUSION

As expected, GSD-I was found to be associated with an increased risk of mucocutaneous haemorrhage. However, no correlation was observed between primary hemostasis impairment and bleeding tendency in the present study.