Progress in the treatment of lymphangioleiomyomatosis: From bench to bedside

Lymphangioleiomyomatosis is a multisystem disease affecting women, which is characterized by cystic lung destruction, lymphatic abnormalities (e.g., lymphangioleiomyomas), and abdominal tumors which are found primarily in the kidneys, and consist of smooth muscle cells, vascular structures and adipocytes, termed angiomyolipomas.1,2 Lymphangioleiomyomatosis occurs sporadically and in about one-third of women with tuberous sclerosis complex (TSC), an autosomal dominant disorder with variable penetrance.1,2 In either case, LAM is caused by mutations of TSC1 or TSC2, two genes that encode, respectively, hamartin and tuberin, two proteins that regulate cell growth.3,4 Deficiency of these proteins causes