Successful diagnosis of lymphangioleiomyomatosis with transbronchial lung cryobiopsy

A 47-year old female was evaluated in our clinic for an incidental discovery of diffuse cystic lung disease on high-resolution computed tomography (CT) scan of the chest. There was no personal or family history of tuberous sclerosis complex (TSC), sicca symptoms, pneumothorax, or skin or renal tumors. Review of her chest CT scan showed bilateral, round, uniform, thin-walled cysts present in a diffuse distribution characteristic of lymphangioleiomyomatosis (LAM). CT scan of the abdomen and pelvis did not reveal angiomyolipomas, lymphangioleiomyomas, abnormal lymphadenopathy, or chylous fluid collections. Serum vascular endothelial growth factor-D was non-diagnostic. In order to achieve diagnostic confirmation, the patient underwent transbronchial cryobiopsy of the lung, revealing changes consistent with LAM. Our case highlights the utility of transbronchial lung cryobiopsy in the evaluation of patients with suspected LAM and suggests that further investigation of this diagnostic technique is warranted in patients presenting with diffuse cystic lung disease.