Glycogen storage disease type I
ICD-10 E74.0 · ICD-11 5C51.3.6

Glycogen Storage Disease Type I with Bleeding Diathesis and Platelet Dysfunction

Patients with Glycogen storage disease type I (GSD I) may develop a bleeding diathesis arising from acquired platelet dysfunction or a von Willebrand disease-like defect. This coagulation complication requires targeted haemostatic management as part of the overall care approach.

Clinical scenario

In GSD I, an acquired coagulation defect characterised by prolonged bleeding times, decreased platelet adhesiveness, and abnormal platelet aggregation has been described — producing a bleeding diathesis that may clinically resemble von Willebrand disease. This platelet dysfunction can manifest as mucosal or other haemorrhagic complications requiring specific intervention.

Treatment approach — partial overview

When mucosal-associated bleeding is present, an adjunctive fibrinolytic inhibitor may be considered as part of the haemostatic strategy. The specific formulation, route, and clinical pathway are guided by bleeding severity.

The complete regimen — including agent selection, route of administration, and the full management algorithm — is available in the structured protocol below.

Instant Access to Structured Evidence-Based Regimens

References

DOI: 10.1038/gim.2014.128

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).

In addition, the use of a fibrinolytic inhibitor, such as ε-aminocaproic acid (Amicar), can be used as an adjunctive medication if there is mucosal-associated bleeding.

View source ↗