Background

Lymphangioleiomyomatosis (LAM) is a rare lung disease, resulting from proliferation in the lung, kidney, and axial lymphatics of abnormal smooth muscle–like cells (LAM cells) that exhibit features of neoplasia and neural crest origin.^{[1, 2, 3]}Cystic destruction of the lung with progressive pulmonary dysfunction and the presence of abdominal tumors (eg, angiomyolipomas [AML], lymphangioleiomyomas) characterize the disease.

In 2015, the World Health Organization reclassified lymphangioleiomyomatosis with PEComa benign and malignant tumors in a new PEComatous tumors group. Previously, LAM was considered an interstitial lung disease but it is now considered to be a low-grade destructive metastasizing neoplasm.^[4]

LAM is almost exclusively seen in adult women and occurs both sporadically and in patients with tuberous sclerosis complex (TSC), an inherited an autosomal dominant neoplastic syndrome due, in part, to mutations in the TSC1 or TSC2 gene.^[5]Dyspnea with daily activities, recurrent pneumothoraces, and hypoxia requiring supplemental oxygen develop in most patients within 10 years of symptom onset.^[6]

The 2017 American Thoracic Society/Japanese Respiratory Society guidelines support a clinical diagnosis of LAM based on high-resolution computed tomography (HRCT) findings typical for LAM (eg, diffuse, thin-walled, round) and accompanied by any of the following clinical features: TSC, renal angiomyolipoma, cystic lymphangioleiomyoma, or chylous pleural effusions in the chest and/or abdomen.

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Author

Joel Moss, MD, PhD Deputy Chief, Cardiovascular and Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health

Joel Moss, MD, PhD is a member of the following medical societies: Alpha Omega Alpha, American College of Chest Physicians, American Society for Clinical Investigation, American Society for Biochemistry and Molecular Biology, American Thoracic Society, Association of American Physicians, Phi Beta Kappa

Disclosure: Nothing to disclose.

Coauthor(s)

Arnold S Kristof, MDCM, FRCPC Associate Professor of Medicine, Department of Medicine, Respiratory and Critical Care Divisions, Associate Member, Department of Microbiology and Immunology, Research Director, Meakins-Christie Laboratories, McGill University Faculty of Medicine; Attending Physician, Respiratory and Critical Care Divisions, McGill University Health Centre, Royal Victoria Hospital, Canada

Arnold S Kristof, MDCM, FRCPC is a member of the following medical societies: American College of Chest Physicians, American Society for Biochemistry and Molecular Biology, American Thoracic Society, Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Harold L Manning, MD Professor, Departments of Medicine, Anesthesiology and Physiology, Section of Pulmonary and Critical Care Medicine, Dartmouth Medical School

Harold L Manning, MD is a member of the following medical societies: American College of Chest Physicians, American College of Physicians, American Thoracic Society

Disclosure: Nothing to disclose.

Chief Editor

Zab Mosenifar, MD, FACP, FCCP Geri and Richard Brawerman Chair in Pulmonary and Critical Care Medicine, Professor and Executive Vice Chairman, Department of Medicine, Medical Director, Women's Guild Lung Institute, Cedars Sinai Medical Center, University of California, Los Angeles, David Geffen School of Medicine

Zab Mosenifar, MD, FACP, FCCP is a member of the following medical societies: American College of Chest Physicians, American College of Physicians, American Federation for Medical Research, American Thoracic Society

Disclosure: Nothing to disclose.

Acknowledgements

John A Kelly, MB, BCh, MD † Assistant Professor of Medicine and Microbiology and Immunology, Dartmouth Medical School; Staff Pulmonologist, White River Junction Veterans Affairs Medical Center.

Acknowledgments

This work was supported in part by the Division of Intramural Research, National Institutes of Health, National Heart, Lung, and Blood Institute (J.M.) as well as National Institutes of Health R01-CA125436, Tuberous Sclerosis Alliance, LAM Foundation, LAM Canada (A.K.).

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