title: [Sporadic Lymphangioleiomyomatosis (sLAM) and Tuberous Sclerosis Complex (TSC) - Pulmonary Manifestations].
abstract: Lymphangioleiomyomatosis (LAM) is a rare multi-system disorder affecting predominantly women of childbearing age. The disease entity is divided in sporadic LAM (sLAM) and LAM associated with tuberous sclerosis complex (TSC). In up to 50 % of female TSC-patients pulmonary involvement (TSC-LAM) can be found, with first clinical symptoms usually starting between 25 and 30 years of age. Progressive deterioration of lung function of 3 - 11 % of diffusion capacity per year has been described, that's why all female TSC patients should be screened for LAM (pulmonary function testing, 6-minute walk test, high-resolution chest CT scan). MTOR inhibitors such as Everolimus or Sirolimus are implemented in the treatment of TSC/LAM and found to control disease burden. Screening for all organ manifestations in TSC is recommended and allows to improve prognosis and to prevent complications in TSC.
authors: Med. Klinik m. S. Nephrologie, Charité Universitätsmedizin Berlin, Berlin.
authors: S
authors: S
authors: Brakemeier
authors: Ev. Lungenklinik - Berlin Buch, Klinik für Pneumologie, Berlin.
authors: C
authors: C
authors: Grohé
authors: Med. Klinik m. S. Nephrologie, Charité Universitätsmedizin Berlin, Berlin.
authors: F
authors: F
authors: Bachmann
authors: Med. Klinik m. S. Nephrologie, Charité Universitätsmedizin Berlin, Berlin.
authors: K
authors: K
authors: Budde
mesh_terms: D003937:Diagnosis, Differential; D006801:Humans; D008175:Lung Neoplasms / Q000175:diagnosis*; D018192:Lymphangioleiomyomatosis / Q000175:diagnosis*; D012120:Respiration Disorders / Q000000981:diagnostic imaging*; D012129:Respiratory Function Tests / Q000379:methods*; D013577:Syndrome; D014057:Tomography, X-Ray Computed / Q000379:methods*; D014402:Tuberous Sclerosis / Q000175:diagnosis*