Good response to PAH-targeted drugs in a PVOD patient carrying Biallelic EIF2AK4 mutation.

Pulmonary veno-occlusive disease (PVOD) is a rare and fatal cause of pulmonary arterial hypertension (PAH). Different from other types of PAH, PVOD patients have a dismal prognosis because of the progressive nature of pulmonary vascular involvement and fatal pulmonary edema induced by PAH-targeted drugs. Lung transplantation is the only choice for these patients. In a recent article published in the journal, Yang and his colleagues found pulmonary edema was not demonstrated in 2 of the 6 PVOD patients injected with prostacyclin analogues (a kind of PAH-targeted drug). Regretfully, none of these 6 patients underwent microscopic examination of lung tissues. Here, we reported a sporadic PVOD patient evidenced by pathology and EIF2AK4 biallelic mutation. The patient was followed over the course of 3 years in our center. During the 3 years, he was admitted into our hospital for many times for the acute exacerbation of pulmonary hypertension. However, after treatment with many kinds of PAH-targeted drugs, the pulmonary hypertension was in control and he feel better every time. The present patient displayed different treatment response comparing with previous reports. It suggests that PVOD is a heterogeneity population and different patients have different characteristics including clinical manifestation, genomics, treatment response et al. How to pick off this portion of patients timely is the core issue. Lots of important works are necessary to answer this question. However, we can see a glimmer of hope form this patient at least.