Lengthy diagnostic challenge in a rare case of pulmonary veno-occlusive disease: Case report and review of the literature

Abstract

Pulmonary veno-occlusive disease (PVOD) is a rare and usually survival poor disorder. We report a patient with a long history of progressive dyspnea of over 8 years, who with a diagnosis of chronic cor pulmonale confirmed elsewhere, was ultimately diagnosed as PVOD via histological analysis of a lung biopsy. After treatment with combined bosentan, diuretics and digoxin, his symptoms and function improved. This case highlights that PVOD is an under-recognised and often misdiagnosed disease, especially in its chronic form. Understanding its pathogenesis, its poor response to medical therapy and its dismal prognosis remain challenges for the treatment of PVOD. © 2011 The Japanese Society of Internal Medicine.