Mechanisms of exertional dyspnoea in pulmonary veno-occlusive disease with EIF2AK4 mutations

摘要

Dyspnoea curtails daily-living activities in patients with pulmonary veno-occlusive disease (PVOD) [1,2] and pulmonary arterial hypertension (PAH) [3-5]. It is a common clinical observation that PVOD patients may experience greater dyspnoea than PAH patients during daily activities [1, 2]. However, this clinical feature and its putative underlying mechanisms have not yet been explored. Cardiopulmonary exercise testing (CPET) is well suited for understanding mechanisms underlying dyspnoea during exercise both in research and clinical settings [4, 5]. In the present study, we hypothesised that the perceived clinical difference between PVOD and PAH regarding exertional dyspnoea would be reflected by a different physiological response to CPET. Building on recent advances obtained with CPET in PAH patients [4], we set out to evaluate the relationship between exertional dyspnoea and the physiological response to CPET in eight PVOD patients presenting with recessive mutations in EIF2AK4, compared with 16 idiopathic or heritable PAH patients.