Pulmonary veno-occlusive disease: a paradigm of diagnosis and therapeutic challenges in pulmonary hypertension.

Purpose Of Review: Pulmonary veno-occlusive disease (PVOD) is a rare and life-threatening form of precapillary pulmonary hypertension. This review aims to outline its genetic and environmental risk factors, highlight key diagnostic challenges, and discuss current treatment options.

Recent Findings: PVOD can occur sporadically or as a hereditary autosomal recessive condition with biallelic eukaryotic translation initiation factor 2 alpha kinase 4 ( EIF2AK4) mutations, leading to nearly complete disease penetrance.