Treatment of Glycogen Storage Disease Type I in Pulmonary Arterial Hypertension
In patients with Glycogen storage disease type I (GSD-I), the detection of pulmonary arterial hypertension (PAH) requires prompt clinical attention and a specialist-coordinated treatment strategy distinct from routine metabolic management.
When pulmonary arterial hypertension is identified in the context of GSD-I, effective management of the pulmonary vascular complication becomes a clinical priority alongside the underlying metabolic disease.
Clinical Approach
Management involves PAH-targeted pharmacotherapy, pursued in consultation with a physician experienced in pulmonary arterial hypertension. The complete treatment approach — including specific agents, their use, and the clinical algorithm — is detailed in the structured protocol below.
Primary treatment goal: Reduce pulmonary artery pressure.
References
- DOI: 10.1038/gim.2014.128
- If PAH is detected, pursuing effective treatment methods such as treatment with Bosentan and Sildenafil in consultation with a physician experienced in managing PAH is recommended.
- There is one recent case report of a patient with significant PAH with systemic right-ventricular pressure who responded well to medical management with prostacyclin and sildenafil (Viagra) to reduce the pulmonary artery pressure.