Afectación global respiratoria en pacientes con el complejo esclerosis tuberosa

Abstract

Respiratory involvement in the tuberous sclerosis complex (TSC) may be due to two main pathologies, lymphangioleiomyomatosis (LAM) and / or multifocal micronodular pneumocyte hyperplasia (MMPH). The first of these, with the presence of parenchymal cysts, can be associated in 40% of cases, predominantly in women and differentiating itself from the sporadic form in the hereditary character, a less aggressive clinical course and less severity in the pulmonary function tests. It is the most frequent cause of death in adult women with TSC with a 7-year reduction compared to TSC without LAM. On the other hand, MMPH, defined by the presence of pulmonary nodules (PN), with a prevalence of 40-70%, has a more equal affectation in gender, and has a low incidence of significant clinical or functional involvement in these patients with a favorable prognosis. In some studies, respiratory variables have been differentiated and compared between the groups of patients with LAM with those who did not, a study with patients with MMPH with those who did not (or somewhere both coexisted) however there are no articles comparing the clinical findings, extrapulmonary involvement and respiratory function among patients with exclusively LAM, MMPH, CET and both LAM-HMNM pathologies coexisting. OUTCOMES: Primary outcomes: I. Calculate the prevalences of LAM and HMNM in patients with TSC. II. Calculate the prevalence of the CET population with exclusively LAM (LAM only), exclusively HMNM (HMNM only), the population with both pathologies (LAM-HMNM) and without pulmonary involvemente (CET alone). III. Analyze the respiratory clinical characteristics, thoracic radiological variables and those associated with pulmonary function tests in LAM, HMNM, LAM only, HMNM only, LAM-HMNM and CET alone...