Pulmonary lymphangioleiomyomatosis (LAM)

Abstract

Lymphangioleiomyomatosis (LAM) is a multisystem disorder affecting kidneys and lymphatics, with primary pathology involving the lungs. Pulmonary lymphangioleiomyomatosis is a rare lung disease characterized by diffuse cystic changes caused by a destructive proliferation of smooth muscle-like cells or LAM cells. It is a part of the perivascular epithelioid cell family of tumors. LAM may be associated with the genetic disorder tuberous sclerosis complex or may occur sporadically. Individuals affected by LAM are typically females of reproductive age who present with dyspnea, chest pain, coughing, hemoptysis or recurrent spontaneous pneumothorax. Definitive diagnosis of LAM is usually based on pathologic results and immunohistochemically staining lung biopsy specimens obtained through the chest wall or during endoscopic surgery for pneumothorax. Patients may receive immunosuppressant therapy to suppress respiratory decline and/or undergo pleurodesis to prevent complications such as pneumothorax. Traditionally, LAM was managed via lung transplantation exclusively, however, with genetic testing and an increase in the patient study population, alternative management techniques are being researched.