title: Women with TSC: Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis.
abstract: The advent of pharmacological therapies for lymphangioleiomyomatosis (LAM) has made early diagnosis important in women with tuberous sclerosis complex (TSC), although the lifelong cumulative radiation exposure caused by chest computer tomography (CT) should not be underestimated. We retrospectively investigated, in a cohort of TSC outpatients of San Paolo Hospital (Milan, Italy) 1) the role of pulmonary function tests (PFTs) for LAM diagnosis, 2) the association between LAM and other features of TSC (e.g. demography, extrapulmonary manifestations, genetic mutations, etc.), and 3) the characteristics of patients with multifocal micronodular pneumocyte hyperplasia (MMPH). Eighty-six women underwent chest CT scan; pulmonary involvement was found in 66 patients (77%; 49% LAM with or without MMPH, and 28% MMPH alone). LAM patients were older, with a higher rate of pneumothorax, presented more frequently with renal and hepatic angiomyolipomas, and tended to have a TSC2 mutation profile. PFTs, assessed in 64% of women unaffected by cognitive impairments, revealed a lower lung diffusion capacity in LAM patients. In multivariate analysis, age, but not PFTs, resulted independently associated with LAM diagnosis. Patients with MMPH alone did not show specific clinical, functional or genetic features. A mild respiratory impairment was most common in LAM-TSC patients: In conclusions, PFTs, even if indicated to assess impairment in lung function, are feasible in a limited number of patients, and are not significantly useful for LAM diagnosis in women with TSC.
authors.affiliation: Respiratory Unit, Ospedale San Paolo, Milan, Italy.|Department of Health Science, Università degli Studi di Milano, Milan, Italy.
authors.forename: Fabiano
authors.initials: F
authors.lastname: Di Marco
authors.affiliation: Respiratory Unit, Ospedale San Paolo, Milan, Italy.|Department of Health Science, Università degli Studi di Milano, Milan, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Terraneo
authors.affiliation: Respiratory Unit, Ospedale San Paolo, Milan, Italy.|Department of Health Science, Università degli Studi di Milano, Milan, Italy.
authors.forename: Gianluca
authors.initials: G
authors.lastname: Imeri
authors.affiliation: Respiratory Unit, Ospedale San Paolo, Milan, Italy.|Department of Health Science, Università degli Studi di Milano, Milan, Italy.
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Palumbo
authors.affiliation: Epilepsy Center, Ospedale San Paolo, Milan, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: La Briola
authors.affiliation: Diagnostic and Interventional Radiology Unit, Department of Diagnostic Services, Ospedale San Paolo, Milan, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Tresoldi
authors.affiliation: Department of Nephrology, Ospedale San Paolo, Milan, Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: Volpi
authors.affiliation: Dermatologic Clinic, Ospedale San Paolo, Milan, Italy.
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Gualandri
authors.affiliation: Disabled Advanced Medical Assistance Unit, Ospedale San Paolo, Milan, Italy.|Department of Health Science, Università degli Studi di Milano, Milan, Italy.
authors.forename: Filippo
authors.initials: F
authors.lastname: Ghelma
authors.affiliation: Department of Human Pathology, Cytogenetic and Molecular Pathology, Ospedale San Paolo, Milan, Italy.
authors.forename: Rosa Maria
authors.initials: RM
authors.lastname: Alfano
authors.affiliation: First Division of Urology, Ospedale San Paolo, Milan, Italy.|Department of Health Science, Università degli Studi di Milano, Milan, Italy.
authors.forename: Emanuele
authors.initials: E
authors.lastname: Montanari
authors.affiliation: Laboratories of Pharmacology, Università degli Studi di Milano, Milan, Italy.|Department of Health Science, Università degli Studi di Milano, Milan, Italy.
authors.forename: Alfredo
authors.initials: A
authors.lastname: Gorio
authors.affiliation: Laboratories of Pharmacology, Università degli Studi di Milano, Milan, Italy.|Department of Health Science, Università degli Studi di Milano, Milan, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Lesma
authors.affiliation: Epilepsy Center, Ospedale San Paolo, Milan, Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: Peron
authors.affiliation: Epilepsy Center, Ospedale San Paolo, Milan, Italy.|Department of Health Science, Università degli Studi di Milano, Milan, Italy.
authors.forename: Maria Paola
authors.initials: MP
authors.lastname: Canevini
authors.affiliation: Respiratory Unit, Ospedale San Paolo, Milan, Italy.|Department of Health Science, Università degli Studi di Milano, Milan, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Centanni
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003710:Demography; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D018192:Lymphangioleiomyomatosis / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D015999:Multivariate Analysis; D016017:Odds Ratio; D015995:Prevalence; D012129:Respiratory Function Tests; D012307:Risk Factors; D014402:Tuberous Sclerosis / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D055815:Young Adult