Dr. Jayaraj Rajagopal: In tuberous sclerosis, the most serious lung disease that one has to contend with is called LAM. This is lymphangioleiomyomatosis. This disease is a very rare and unusual lung disease in other settings, but occurs relatively frequently in patients with tuberous sclerosis. It's a serious disease that involves the proliferation of the LAM cell within the lung, and causes a number of problems because of the excess number of cells in different parts of the lung. It can cause problems with wheezing, or problems with the blood vessels or the lymphatic vessels of the lung. And indeed, one can go on to develop lung cysts in the lung, that then cause lung collapse. It can also present in numerous other ways. But the most common symptoms that a young person with LAM will have are shortness of breath and cough, as well as chest pain. Unfortunately there is no proven specific therapy yet for LAM. But there is an interesting drug on the horizon, Rapamycin, which specifically affects the pathway of the genes that are affected in tuberous sclerosis. And finally there's lung transplantation as a last ditch alternative, when LAM is very progressive. There are currently a number of active studies in tuberous sclerosis and we hope that Rapamycin will prove to be a very effective agent at controlling uh those patients with tuberous sclerosis that develop LAM lung disease.
© 2006 The General Hospital Corporation.