Recognizing, Diagnosing, and Treating Lymphangioleiomyomatosis

ABSTRACT Objective: To review the clinical features, diagnostic approach, and treatment of lymphangioleiomyomatosis (LAM). The presenting symptoms of LAM are common complaints seen in family medicine. When misdiagnosed, patients receive incorrect treatment for years. While specialty consultation may be needed to make a definitive diagnosis, a confident clinical diagnosis can be made based on pulmonary function testing and high-resolution computed tomography. Methods: PubMed was the primary research source. The search was limited to articles published within the last five years. The reference lists of publications identified in the search yielded additional relevant articles. Results: Evidence-based research detailing the presenting symptoms, diagnostic features, and treatment of LAM. Conclusions: Lymphangioleiomyomatosis is a cystic lung disease that is commonly misdiagnosed and consequently incorrectly treated. The recognition of common presentations and radiological features on imaging such as high-resolution chest tomography by the primary care provider should prompt specialty consultation and the initiation of treatment with mammalian target of rapamycin (mTOR) inhibitors. Keywords: lymphangioleiomyomatosis; cystic lung disease; spontaneous pneumothorax