[Lymphangioleiomyomatosis].

[lymphangioleiomyomatosis]

LAM is one of the rare lung diseases . Approximately 200 -400 female patients are to be expected in Germany . Only rare reports exist describing a male LAM patient . LAM exists in two forms : a spontaneous mosaic mutation (S-LAM ) and a germ line mutation resulting in a combination of pulmonary and systemic symptoms called tuberous sclerosis (TSC-LAM ). Although the influence of estrogen is not yet entirely recognized , pregnancy and estrogen containing anticonception will worsen the course of the disease . Ten year prognosis of the disease is well over 80 % but variability is large . Rapid progression exists .The clinical picture of S-LAM is dominated by pneumothorax , chylous pleural effusions , dyspnoea upon exertion . (HR ) CT demonstrates the easily recognizable and characteristic cystic transformation of the parenchyma . The cellular sequels of the disease involve constant activation of the mTORC 1 complex with protein synthesis , proliferation , enzymatic parenchymal transformation , improved cellular survival and metastasis into the lungs most likely from an extrapulmonary source . Following extensive research on the pathologic activation of the mTORC 1 pathway , an initial way of halting progression has been found in using mTORC 1 inhibitors (Sirolimus , Everolimus ). Complimentary strategies are currently investigated in order to improve the therapeutic effect . These measures will improve LAM prognosis in the future . Therapy resistant LAM is a valid indication for lung transplantation .