Positive vasoreactive response in patients with genetically confirmed pulmonary veno-occlusive disease: case report

Pulmonary veno-occlusive disease (PVOD) is verified by identifying typical pathological changes in lungs or mutation in the EIF2AK4 gene. Clinical suspicion is based on combination of specific pulmonary pattern on computed tomography scan, hypoxemia with low diffusing lung capacity (DLCO) and inadequate response to specific therapy of pulmonary arterial hypertension (PAH). The rapid course of PVOD with high mortality determines the importance of early diagnosis and lung transplantation refferal. We present an unusual clinical case of 40-year-old woman with expected idiopathic PAH and extremely low DLCO with verified EIF2AK4 gene mutation, who demonstrated a positive vasoreactive test (VRT) and clinical response to calcium channel blockers therapy at the onset of the disease. The loss of positive VRT and subsequent PAH specific therapy escalation resulted in PVOD manifestation with severe desaturation, recurrent syncope and pulmonary edema. The combination of low DLCO and inadequate response to PAH therapy in idiopathic PAH patient should be of a paramount awareness of PVOD. Careful PAH therapy escalation with meticulous follow-up, pulmonary multispiral CT and genetic testing could improve early PVOD diagnostics and lung transplantation referral.