Lymphangioleiomyomatosis: a case report

Lymphangioleiomyomatosis (LAM) is a rare disease of unknown cause that traditionally affects young women of reproductive age. It is characterized by a proliferation of atypical smooth muscle cells, preferentially along the bronchovascular structures, that causes progressive respiratory failure. LAM is almost universally fatal without a lung transplant, although new clinical trials are ongoing. Because of its rareness and nonspecific presenting symptoms, patients often receive a missed or delayed diagnosis. We present the case of a 51-year-old postmenopausal woman who had hemoptysis ultimately determined to be due to LAM. As is common for patients with LAM, the initial chest radiograph was unremarkable, whereas subsequent computed tomography (CT) demonstrated the distinctive pulmonary parenchymal cysts. Biopsy of an HMB-45-positive, para-aortic lymphangiomyoma provided further confirmation of the diagnosis. LAM may be more common than previously recognized, and it is imperative for primary care providers to be able to recognize this disease so they can make prompt referrals to appropriate specialty centers.