Pericardial Effusion as a Presentation of Lymphangioleiomyomatosis

Lymphangioleiomyomatosis (LAM) is a rare, systemic neoplastic disease that primarily affects women of childbearing age. The disease can arise sporadically or in association with tuberous sclerosis. It is characterized by the proliferation of abnormal smooth muscle-like cells, leading to cystic lung destruction, accumulation of chylous fluid, and development of abdominal tumors. The main clinical presentations are pneumothorax and progressive dyspnea on exertion. In some patients, the onset of symptoms occurs while on estrogen replacement therapy or during pregnancy. Since most patients present with common lung symptoms, such as fatigue and dyspnea, LAM is often the last diagnosis to consider. Worsening symptoms with the menstrual cycle can help raise this suspicion. This report describes a case of LAM in which the lack of awareness about this rare disease led to a significant diagnostic delay. A 34-year-old Caucasian woman presented with symptoms of dyspnea and fatigue that began during her second pregnancy, which were initially misinterpreted as obstructive lung disease for three years. As the disease evolved, the development of a pericardial effusion, a rare manifestation of the disease, led to the need to perform computed tomography, revealing multiple thin-walled intrapulmonary cysts with diffuse distribution suggestive of LAM, mediastinal lymphadenopathy, and lymphangioma. Serum vascular endothelial growth factor A levels were normal, and spirometry testing revealed severe airflow obstruction. Based on clinical and imaging findings, a diagnosis of LAM was made. With this article, we intend to raise awareness for the manifestations of this disease and its relation to hormonal changes and review treatment options.