Pulmonary veno-occlusive disease (PVOD) is one of the rare causes of pulmonary hypertension. Although various factors have been claimed to be a risk factor, the role of thrombotic diathesis in the pathogenesis needs to be clarified. To date increased platelet adhesiveness and some risk factors for hypercoagulability, such as oral contraceptive use were found to be associated with PVOD. Here we reported a child with PVOD and prothrombine gene mutation which is the first case of PVOD with prothrombine gene mutation.
A 13- year- old girl presented with a history of dyspnea and cyanosis. Physical examination revealed cyanosis, tachypnea, ortophnea, bilaterally decreased pulmonary sounds and a loud second heart sound. Chest radiography and echocardiography findings were consistent with pulmonary hypertension and pulmonary edema. Thorax computed tomography showed bilateral ground glass appearance, inter-lobular septal thickening and increased pulmonary arterial diameter suggesting PVOD. Right heart catheterization was performed and increased pulmonary arterial but normal wedge pressure was observed. Lung biopsy confirmed PVOD; intimal fibrosis, increased wall thickness, and luminal occlusion in the small interlobular veins. Other laboratory evaluations revealed heterozygous prothrombine gene mutation with normal serological results for rheumatologic, infectious and hereditary thrombophilias.Thrombocyte aggregation and secretion tests were normal. Despite of treatment with morphine, furosemid and iloprost inhalation pulmonary edema progressed. So iloprost was discontinued, warfarin and corticosteroid treatment were started. But she worsened and died at 33thday of her admission.
In conclusion prothrombine gene mutation may be a risk factor for PVOD. But its association should be verified with further reports.