15 February 2020 by Reda Girgis

Pulmonary veno-occlusive disease, unexpected numbers in an extremely rare disease: a case series

Pulmonary veno-occlusive disease/Pulmonary capillary hemangiomatosis (PVOD/PCH) is a rare form of pulmonary hypertension without proven medical therapies. Risk factors include chemotherapy, organic solvents, smoking, connective tissue disease, and EIF2AK4 gene mutations in heritable cases. In this case series, we describe nine patients clinically diagnosed with PVOD, including 2 with pathologic confirmation. Each had at least 2 of the radiographic features on high resolution computed tomography imaging and all had severe reduction (<50%) in DLCO and often profound hypoxemia. Median mean pulmonary artery pressure was 46 mm Hg(range 31-49) and pulmonary vascular resistance 8.4 Wood units (range: 3-15.5). Two subjects had underlying scleroderma, 2 had a known occupational exposure and 2 had mild to moderate underlying emphysema. One subject had PAH diagnosed 7 years previously and ultimately treated with triple oral PAH targeted therapy. After biopsy confirmation of PVOD/PCH, a trial of interferon-alpha therapy has been initiated. The remaining 8 were seen over approximately 24 months at our center serving a population of just over 1 million, which far exceeds the expected number of observed cases. Three patients died within 6 m of diagnosis, one is currently in home hospice and one was lost to follow-up after denial for lung transplant consideration. One was successfully transplanted after 20 m during which she demonstrated a transient therapeutic response to low dose IV epoprostenol and 1 is currently listed for lung transplant. The last patient remains alive 25 months after diagnosis. She was treated with up-front triple combination therapy, including low dose IV epoprostenol. This case series highlights the poor prognosis of the disease as well as the challenge and potential utility of PAH targeted therapies. The relatively large number of cases seen over a short period of time raises the possibility of a common environmental factor in our geographic area.

Key Contributors

Ojobumijo Agbaji, Brett Begley, Michael Ryan, Edward Murphy, Reda Girgis Spectrum Health and Michigan State University College of Human Medicine, Grand Rapids, MI

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