Abstract Introduction Within the realm of interstitial lung diseases, a unique and rare idiopathic disease exists in the form of lymphangioleiomyomatosis (LAM). Characterized by smooth muscle proliferation within the vasculature and lymph nodes, LAM has been thought to be primarily a pulmonary disease. However, the presence of extrapulmonary manifestations is often missed and undiagnosed. Specifically, renal angiomyolipomas manifesting as abdominal pain is a rare complication of LAM. We describe a 58-year-old woman with no significant medical history who initially presented with diffuse abdominal pain found to have underlying LAM. Case Presentation A 58-year-old healthy woman initially presented to her primary care physician’s office due to complaints of diffuse abdominal pain radiating to her back for several months. Once the usual causes of abdominal pain were ruled out, she underwent a CT scan of the abdomen and pelvis without contrast, which illustrated a large 4.6 x 2.5 x 3.5 cm renal angiomyolipoma on the left kidney. Incidentally, the bases of the lungs were visualized and showed thin-walled cysts bilaterally. Upon further evaluation, a dedicated CT of the chest without contrast was obtained, which showed diffuse cystic changes of the lungs. A full set of pulmonary function tests (PFTs) were also obtained, which showed restrictive changes with total lung capacity (TLC) 71% of predicted, and decreased diffusion capacity of the lungs for carbon monoxide (DLCO) 65% of predicted. Due to high suspicion of underlying LAM, the patient was offered a bronchoscopy with transbronchial biopsies for tissue sampling. However, due to personal reasons, the patient refused and elected to proceed with non-invasive diagnostic testing. As such, serum vascular endothelial growth factor-D (VEGF-D) levels were obtained, which resulted in a value of 1292 pg/mL (normal 800 pg/mL). Given her diffuse cystic lung disease, renal angiomyolipoma and elevated VEGF-D levels, a presumed diagnosis of LAM was established. After having a shared discussion with the patient, a decision was made to start therapy with sirolimus, to attenuate further progression of the cystic lung disease and renal angiomyolipoma. Discussion Upon review of literature, only a handful of LAM cases presenting as asymptomatic pulmonary disease with extrapulmonary manifestations have been described (1, 2). This case report highlights the importance of considering lymphangioleiomyomatosis (LAM) and its extrapulmonary symptoms within the differential diagnosis of unexplained abdominal pain. Early detection of this systemic disease allows for initiation of therapy (sirolimus) before the onset of severe pulmonary or hemorrhagic complications. This abstract is funded by: None
Rangroo et al. (Fri,) studied this question.