Tuberous Sclerosis Complex and Lymphangioleiomyomatosis: Miles to Go, Promises to Keep
Authors: Elizabeth Henske
Journal: Annals of Internal Medicine (2011)

Editorials21 June 2011Tuberous Sclerosis Complex and Lymphangioleiomyomatosis: Miles to Go, Promises to KeepElizabeth Henske, MDElizabeth Henske, MDFrom Brigham and Women's Hospital, Boston, MA 02115.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-154-12-201106210-00015 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail Two articles in this issue (1, 2) reflect important progress in our understanding of the treatment of lymphangioleiomyomatosis (LAM) and the relationship between LAM and tuberous sclerosis complex (TSC). Lymphangioleiomyomatosis is a progressive, multisystem disorder in which abnormal smooth muscle–like cells (LAM cells) spread diffusely through both lungs, leading to cystic destruction of lung tissue and pneumothorax. It almost exclusively affects women for reasons that remain poorly understood. Most women with LAM also have renal angiomyolipomas, which are benign tumors with 3 distinct components: abnormal smooth muscle cells, enlarged vessels, and fat. Lymphangioleiomyomatosis occurs in a sporadic form and in ...References1. Seibert D, Hong CH, Takeuchi F, Olsen C, Hathaway O, Moss J, et al. Recognition of tuberous sclerosis in adult women: delayed presentation with life-threatening consequences. Ann Intern Med. 2011;154:806-13. LinkGoogle Scholar2. Taveira-DaSilva AM, Hathaway O, Stylianou M, Moss J. Changes in lung function and chylous effusions in patients with lymphangioleiomyomatosis treated with sirolimus. Ann Intern Med. 2011;154:797-805. LinkGoogle Scholar3. Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med. 2006;355:1345-56. [PMID: 17005952] CrossrefMedlineGoogle Scholar4. Carsillo T, Astrinidis A, Henske EP. Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. Proc Natl Acad Sci U S A. 2000;97:6085-90. [PMID: 10823953] CrossrefMedlineGoogle Scholar5. Bissler JJ, McCormack FX, Young LR, Elwing JM, Chuck G, Leonard JM, et al. Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis. N Engl J Med. 2008;358:140-51. [PMID: 18184959] CrossrefMedlineGoogle Scholar6. McCormack FX, Inoue Y, Moss J, Singer LG, Strange C, Nakata K, et al; National Institutes of Health Rare Lung Diseases Consortium. Efficacy and safety of sirolimus in lymphangioleiomyomatosis. N Engl J Med. 2011;364:1595-606. [PMID: 21410393] CrossrefMedlineGoogle Scholar7. Davies DM, de Vries PJ, Johnson SR, McCartney DL, Cox JA, Serra AL, et al. Sirolimus therapy for angiomyolipoma in tuberous sclerosis and sporadic lymphangioleiomyomatosis: a phase 2 trial. Clin Cancer Res. 2011;:. [PMID: 21525172] CrossrefMedlineGoogle Scholar Author, Article, and Disclosure InformationAuthors: Elizabeth Henske, MDAffiliations: From Brigham and Women's Hospital, Boston, MA 02115.Disclosures: Disclosures can be viewed at www.acponline.org/authors/icmje/ConflictOfInterestForms.do?msNum=M11-1084.Corresponding Author: Elizabeth Henske, MD, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115; e-mail, ehenske@partners.org. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetailsSee AlsoChanges in Lung Function and Chylous Effusions in Patients With Lymphangioleiomyomatosis Treated With Sirolimus Angelo M. Taveira-DaSilva , Olanda Hathaway , Mario Stylianou , and Joel Moss Recognition of Tuberous Sclerosis in Adult Women: Delayed Presentation With Life-Threatening Consequences Diane Seibert , Chien-Hui Hong , Fumiko Takeuchi , Cara Olsen , Olonda Hathaway , Joel Moss , and Thomas N. Darling Metrics Cited bySex-Steroid Signaling in Lung Diseases and InflammationLymphangioleiomyomatosisMalignant Perivascular Epithelioid Cell Tumor of the Gallbladder: A Case Report and Review of LiteratureResolution of Chylous Pulmonary Congestion and Respiratory Failure in Lymphangioleiomyomatosis with Sirolimus Therapy 21 June 2011Volume 154, Issue 12Page: 840-841KeywordsBenign tumorsCellsLungsMutationNatural history of diseasePleural effusionPulmonary functionSmooth muscle cellsThoraxTuberous sclerosis ePublished: 21 June 2011 Issue Published: 21 June 2011 Copyright & PermissionsCopyright © 2011 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...