Lymphangioleiomyomatosis: A Case Report and Review of Clinical Features and Management

Pulmonary sporadic lymphangioleiomyomatosis (LAM) is a female-dominant disease associated with smooth muscle cell proliferation, which results in cystic lung disease presenting commonly with dyspnea and pneumothorax. This article aims to present a patient with the common clinical features and complications of LAM so as to aid in the efficient diagnosis and treatment of future patients. Limited options in the management of LAM make early diagnosis key, as management focuses on supportive care to slow the progressive decline of pulmonary function. Workup includes a diagnosis of exclusion with specific antibodies or titers such as anti-Sjögren's syndrome type A (anti-SSA) antibodies, anti-Sjögren's syndrome type B (anti-SSB) antibodies, angiotensin-converting enzyme (ACE) levels, alpha-1-antitrypsin levels, and vascular endothelial growth factor (VEGF) antibodies with definitive diagnosis limited to tissue confirmation. Here, we discuss a 39-year-old female with dyspnea and spontaneous pneumothorax, who was subsequently diagnosed with LAM during her hospitalization and managed outpatient with sirolimus therapy.