Pulmonary Veno-Occlusive Disease: A Focused Clinicopathologic Series

Yub Raj Sedhai, Zein Kattih, Christopher A. Thomas, Junad M. Chowdhury, Anju Singhal, Alan S. Nyquist, Jared D. Wilkinson, Haresh Mani, Vikramjit Khangoora, Christopher S. King, Oksana A. Shlobin, Steven D. Nathan, Shambhu Aryal

https://doi.org/10.1002/pul2.70365 

Abstract

Pulmonary veno-occlusive disease (PVOD) is a rare and aggressive subtype of pulmonary arterial hypertension characterized by fibroproliferative obstruction of post-capillary pulmonary venules leading to increased pulmonary vascular resistance and progressive right ventricular failure. Heritable forms are linked to eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4) mutations, while acquired cases have been associated with environmental exposures, including organic solvents and chemotherapeutic agents like mitomycin-C. PVOD is classified under Group 1 pulmonary hypertension in the current World Symposium on Pulmonary Hypertension classification; however, pulmonary vasodilator therapy has limited efficacy due to the frequent occurrence of acute pulmonary edema. 1 Lung transplantation remains the only definitive and effective therapy for PVOD, and in its absence, the prognosis is uniformly poor. Given the therapeutic and prognostic implications, establishing an accurate diagnosis and early referral for lung transplantation evaluation is imperative. In this single transplant center case series of seven cases, we highlight the clinical presentation and the importance of early recognition and referral to specialized centers for optimal management.

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