Large Vessel Vasculitis in a Young Woman with EIF2AK4 Associated Pulmonary Capillary Hemangiomatosis/Pulmonary Veno-Occlusive Disease

A 38-year-old woman with a history of being physically active presented with symptoms of shortness of breath, muscle pain, and mild leg pain during exercise. Further investigation showed that she had precapillary pulmonary hypertension, ground glass appearance on chest CT scan, and a significantly reduced ability to transfer carbon monoxide in her lungs. Genetic testing revealed mutations in the EIF2AK4 gene, leading to a diagnosis of pulmonary capillary hemangiomatosis/pulmonary veno-occlusive disease (PCH/PVOD). Surprisingly, a PET/CT scan showed increased uptake of a radioactive glucose tracer in the aorta, carotid arteries, and pulmonary arteries. This unexpected finding suggests that there may be increased metabolic activity in these blood vessels.