Diagnosis of Pulmonary Veno-Occlusive Disease in the Absence of Hemodynamic Abnormalities

Abstract

<h3>Introduction</h3> Sarcoidosis is a granulomatous disorder of unknown etiology that can lead to pulmonary hypertension (PH). Pulmonary veno-occlusive disease (PVOD) is a subset of PH characterized by intimal proliferation and obliteration of the intralobular veins. We present this case of a patient with sarcoidosis, who had symptoms and imaging consistent with PVOD, which preceded hemodynamic manifestations. <h3>Case Report</h3> A 52-year-old male nonsmoker presented with progressive shortness of breath, dry cough, and mild wheezing over the preceding seven months. He had no hypoxemia. He had a history of neurosarcoidosis, diagnosed nine years prior, for which he was in remission and off all immunosuppression. Physical examination was pertinent only for minimal lower extremity edema. Spirometry, diffusing capacity, 6-minute-walk-test, B-type Natriuretic Peptide (BNP), sarcoid markers, and infectious workup were normal. Chest computed tomography (CT) scan revealed interlobular septal thickening, ground glass opacities (GGOs), and lymphadenopathy, concerning for PVOD. Transthoracic echo (TTE) was normal. His right heart catheterization (RHC) was notable for a mean pulmonary artery pressure of 28 mmHg, a pulmonary capillary wedge pressure of 15 mmHg, and a pulmonary vascular resistance of 1.71 Woods units. The clinical picture was felt to represent PVOD, with imaging findings preceding hemodynamic changes. He was referred to the lung transplant program. Patient's symptoms rapidly progressed before he could undergo lung biopsy and he developed progressive hypoxemia. He underwent a successful bilateral lung transplant two weeks later. The explanted lung pathology revealed granulomatous PVOD. <h3>Summary</h3> In prior reports of sarcoidosis-associated PVOD, PH was noted on TTE or RHC correlating with symptoms well before diagnosis of PVOD. Additionally, in patients with hemodynamic or biopsy proven diagnoses of PH, the combination of GGOs, interlobular septal thickening, and mediastinal lymphadenopathy is 95% sensitive and 89% specific for PVOD. Our case suggests that CT imaging findings should raise the index of suspicion for PVOD, even in the absence of objective evidence of pulmonary vascular changes on TTE and RHC. In patients with symptoms of dyspnea, progressive hypoxemia, and these imaging findings, delayed evaluation for transplant may miss an opportunity for early intervention.