Sporadic lymphangioleiomyomatosis

Abstract

Lymphangioleiomyomatosis is a rare multisystemic disease which mainly affects women of reproductive age and is distinguished by diffuse cystic pulmonary involvement. It may present sporadically or in association with tuberous sclerosis complex. Lymphangioleiomyomatosis is also characterized by the presence of extrapulmonary angiomyolipomas, lymphatic tumors, chylothorax and pneumothorax.

We present the case of a 39-year-old patient who had had signs and symptoms of pulmonary disease since adolescence, predominantly cough and progressive dyspnea, in addition to fatigue. She had multiple hospitalizations and various diagnoses and treatments without improvement. The clinical history and a high-resolution tomography of the lungs led to a suspicion of the disease, and measurement of vascular endothelial growth factor-D contributed to the diagnosis, with no need for a lung biopsy.