Patients with Glycogen storage disease type I (GSD I) can develop a bleeding diathesis rooted in platelet dysfunction or a von Willebrand disease-like defect. Recognising and managing this haemostatic complication is essential before procedures and whenever elevated bleeding risk is a concern.
An acquired coagulation defect has been described in GSD I, characterised by prolonged bleeding times, decreased platelet adhesiveness, and abnormal platelet aggregation. This pattern resembles von Willebrand disease and requires targeted haemostatic evaluation and intervention.
Management centres on an agent that stimulates factor VIII release from endothelial cells and restores von Willebrand factor activity and the platelet release reaction. Its use in GSD I requires careful monitoring because of specific fluid and electrolyte risks arising in the context of ongoing glucose requirements.
In GSD I, a coagulation defect attributed to acquired platelet dysfunction with prolonged bleeding times, decreased platelet adhesiveness, and abnormal aggregation has been described (Box 5).
Standard management of patients with platelet dysfunction/von Willebrand disease include antifibrinolytics and deamino-8-d-arginine vasopressin, which acts by stimulating factor VIII from endothelial cells and improving von Willebrand factor activity and the platelet release reaction.
These agents could be utilized in patients with GSD I when clinically indicated, but use of deamino-8-d-arginine vasopressin in GSD I must be performed with caution because of the risk of fluid overload and hyponatremia in the setting of i.v. glucose administration.
DOI: 10.1038/gim.2014.128 View source ↗