INTRODUCTION: Pulmonary veno-occlusive disease (PVOD) is a rare subtype of pulmonary arterial hypertension (PAH), often diagnosed only in cases resistant to PAH therapy or after lung histology is obtained through transplantation or autopsy. Early diagnosis of PVOD, however, is associated with improved outcomes. We present a case of PVOD initially diagnosed and confirmed by lung biopsy. CASE PRESENTATION: A 24-year-old male military pilot, a non-smoker, was admitted with progressive dyspnea. On examination, his heart rate was 110 beats per minute, respiratory rate 20 per minute, oxygen saturation 88% at rest and 95% with 3 L/min supplemental oxygen. He was classified as WHO functional class IV, with a six-minute walking distance of 60 m and NT-proBNP of 3315 pg/ml. Electrocardiogram and echocardiography revealed right heart enlargement. Right heart catheterization confirmed precapillary pulmonary hypertension with a low cardiac index (1.75 L/min/m²). High-resolution computed tomography (HRCT) of the lungs showed septal lines, centrilobular ground-glass opacities, and latero-aortic and subcarinal lymph node enlargement, suggestive of PVOD. Diagnosis was confirmed histologically via open lung biopsy and genetically by identification of biallelic EIF2AK4 variants. Eight months after diagnosis, lung transplantation was performed, resulting in dramatic improvement of the patient's condition. This case highlights key aspects of PVOD etiology, epidemiology, diagnosis, and management. CONCLUSION: Patients with PAH should undergo careful evaluation for PVOD. Recognition of characteristic clinical, radiological, and genetic features enables suspicion of this rare PAH subtype and guides cautious titration of targeted therapies. Lung transplantation remains the preferred treatment option for PVOD patients.
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