title: The changing face of a rare disease: lymphangioleiomyomatosis.
abstract: Lymphangioleiomyomatosis is a rare disease characterised by cystic destruction of the lung, lymphatic abnormalities and abdominal tumours. It affects almost exclusively females and can occur sporadically or in patients with tuberous sclerosis complex. In the past decade remarkable progress has been made in understanding of the pathogenesis of this disease leading to a new therapeutic approach. This review summarises recent advances regarding pathogenic mechanisms and clinical manifestations, and highlights the current and the most promising future therapeutic strategies.
authors.affiliation: Unità Operativa di Pneumologia e Terapia Semi-Intensiva Respiratoria, Servizio di Fisiopatologia Respiratoria ed Emodinamica Polmonare, Ospedale San Giuseppe, MultiMedica IRCCS, Milan, Italy Both authors contributed equally sharari@ilpolmone.it.
authors.forename: Sergio
authors.initials: S
authors.lastname: Harari
authors.affiliation: Unità Operativa di Pneumologia e Terapia Semi-Intensiva Respiratoria, Servizio di Fisiopatologia Respiratoria ed Emodinamica Polmonare, Ospedale San Giuseppe, MultiMedica IRCCS, Milan, Italy Both authors contributed equally.
authors.forename: Olga
authors.initials: O
authors.lastname: Torre
authors.affiliation: Unità Operativa di Pneumologia e Terapia Semi-Intensiva Respiratoria, Servizio di Fisiopatologia Respiratoria ed Emodinamica Polmonare, Ospedale San Giuseppe, MultiMedica IRCCS, Milan, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Cassandro
authors.affiliation: Cardiovascular and Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MA, USA.
authors.forename: Joel
authors.initials: J
authors.lastname: Moss
mesh_terms: D018931:Antineoplastic Agents, Hormonal / Q000627:therapeutic use; D015415:Biomarkers / Q000032:analysis; D005260:Female; D006801:Humans; D008175:Lung Neoplasms / Q000473:pathology* / Q000628:therapy; D018192:Lymphangioleiomyomatosis / Q000473:pathology* / Q000628:therapy; D035583:Rare Diseases / Q000473:pathology / Q000628:therapy; D058570:TOR Serine-Threonine Kinases / Q000037:antagonists & inhibitors / Q000627:therapeutic use; D014057:Tomography, X-Ray Computed; D014402:Tuberous Sclerosis / Q000150:complications
chemical_list: D018931:Antineoplastic Agents, Hormonal; D015415:Biomarkers; D058570:TOR Serine-Threonine Kinases