Lymphangioleiomyomatosis: A Review |Biomedgrid

Lymphangioleiomyomatosis (LAM) is a rare, cystic lung disease that almost exclusively affects women during their reproductive years. The estimated prevalence of this disease worldwide is 5 in 1,000,000 people [1]. There is a massively increased prevalence of LAM in patients with the autosomal dominant neurocutaneous disorder, tuberous sclerosis complex (TSC; a disease marked by multi-organ hamartomas, seizures, and intellectual impairment). Because of a shared molecular mechanism, an impressive 30% of patients with TSC develop LAM. [2] This has led to the distinct classifications of spontaneous LAM (S-LAM) and LAM associated with tuberous sclerosis complex (TSC-LAM). LAM of either variety is often accompanied by extra-pulmonary manifestations as well, including angiomyolipomas of the kidney and abdominal lymph nodes, non-pulmonary cystic lymph angioleiomyomas, chylous ascites, and abdominal/pelvic lymphadenopathy [3]. Patients typically present with spontaneous pneumothorax and are subsequently found to have diffuse cystic lung changes on imaging. They often develop progressive dyspnea and airway obstruction and even chylous pleural effusions and ascites. Treatment of LAM centers around sirolimus (an mTOR inhibitor) to slow disease progression; pleurodesis to prevent the recurrence of pneumothorax, and ultimately lung transplant in patients with the end-stage disease [4].