title: [Lymphangioleiomyomatosis].
abstract: 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 mTORC1 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 mTORC1 pathway, an initial way of halting progression has been found in using mTORC1 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.
authors.affiliation: Abteilung Pneumologie, Universitätsklinikum Leipzig AöR.
authors.forename: H
authors.initials: H
authors.lastname: Wirtz
mesh_terms: D003430:Cross-Sectional Studies; D003937:Diagnosis, Differential; D018450:Disease Progression; D000068338:Everolimus; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008168:Lung / Q000473:pathology; D008175:Lung Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D016040:Lung Transplantation; D018192:Lymphangioleiomyomatosis / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D000076222:Mechanistic Target of Rapamycin Complex 1; D009030:Mosaicism; D046912:Multiprotein Complexes / Q000037:antagonists & inhibitors / Q000235:genetics; D020123:Sirolimus / Q000031:analogs & derivatives / Q000627:therapeutic use; D058570:TOR Serine-Threonine Kinases / Q000037:antagonists & inhibitors / Q000235:genetics; D014057:Tomography, X-Ray Computed; D014402:Tuberous Sclerosis / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000601:surgery
chemical_list: D046912:Multiprotein Complexes; D000068338:Everolimus; D000076222:Mechanistic Target of Rapamycin Complex 1; D058570:TOR Serine-Threonine Kinases; D020123:Sirolimus