The role of cardiopulmonary exercise testing in identifying and monitoring pulmonary veno-oclusive disease: a case report with ING

Abstract

Background: Pulmonary veno-occlusive disease (PVOD) is a subgroup of pulmonary arterial hypertension (PAH) where vascular remodelling affects mainly the post-capillary vessels. It is characterized by a particularly worse prognosis and by the risk of developing life-threatening pulmonary oedema, especially after PAH-targeted therapy. Therefore, suspicion of PVOD is crucial to guide the patient's management. In the absence of specific genetic or histological findings, diagnosis has traditionally relied on the recognition of non-invasive indicators associated with a high likelihood of PVOD. The cardiopulmonary exercise testing (CPET) arises as a promising additional tool both to identify these patients and to guide their management.

Case summary: We report the case of a young female patient with dyspnoea and clinical suspicion of PVOD. The diagnostic workup is thoroughly described stressing the valuable and readily accessible information that CPET can provide, in addition to the data of radiological and lung function tests. Once diagnosed, she was started on PAH-targeted therapy with subsequent improvement. The patient underwent a complete reassessment with satisfactory findings, including those of the CPET.

Discussion: Pulmonary veno-occlusive disease diagnosis is still one of the most difficult tasks that pulmonary hypertension physicians have to deal with. An accurate and timely PVOD diagnosis can be challenging, as it is to decide the most appropriate timing of referal to the lung transplant team, and CPET may serve these purposes. Through this case, we would like to review one of the typical clinical courses that PVOD may present and how to analyse the information provided by the diagnostic tests.

Keywords: CPET; Cardiopulmonary exercise test; EIF2AK4; Pulmonary arterial hypertension; Pulmonary veno-occlusive disease.