Published ahead of print on October 6, 2005, doi:10.1164/rccm.200409-1298OC
Am. J. Respir. Crit. Care Med., Volume 173, Number 1, January 2006, 105-111
A more recent version of this article appeared on January 1, 2006
Submitted on September 29, 2004
Accepted on September 30, 2005
The NHLBI Lymphangioleiomyomatosis Registry: Characteristics of 230 Patients at Enrollment
Jay H Ryu1*, Joel Moss2, Gerald J Beck3, Jar-Chi Lee3, Kevin K Brown4, Jeffrey T Chapman5, Geraldine A Finlay6, Eric J Olson1, Stephen J Ruoss7, Janet R Maurer8, Thomas A Raffin7, Hannah H Peavy9, Kevin McCarthy3, Angelo Taveira-DaSilva2, Francis X McCormack10, Nilo A Avila11, Rosamma M DeCastro2, Susan S Jacobs7, Mario Stylianou12, and Barry L Fanburg6
1 Division of Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, MN, United States,
2 Pulmonary-Critical Care Medicine Branch, National Heart, Lung, and Blood Institute, Bethesda, MD, USA,
3 Department of Quantitative Health Sciences, Cleveland Clinic Foundation, Cleveland, OH, USA,
4 National Jewish Medical and Research Center, Denver, CO, USA,
5 Department of Critical Care, Allergy and Pulmonary Medicine, Cleveland Clinic Foundation, Cleveland, OH, USA,
6 Pulmonary and Critical Care Division, New England Medical Center, Boston, MA, USA,
7 Division of Pulmonary and Critical Care Medicine, Stanford University Medical Center, Standford, CA, USA,
8 CIGNA HealthCare, Bloomfield, CT, USA,
9 Division of Lung Diseases, National Institutes of Health, National Heart, Lung, and Blood Institute Project Office, Bethesda, MD, USA,
10 Division of Pulmonary and Critical Care Medicine, University of Cincinnati, Cincinnati, OH, USA,
11 Department of Diagnostic Radiology, National Institutes of Health, Warren G. Magnuson Clinical Center, Bethesda, MD, USA,
12 Biostatistics Research Branch, Division of Epidemiology and Clinical Applications, National Heart, Lung, and Blood Institute, Bethesda, MD, USA
* To whom correspondence should be addressed. E-mail: ryu.jay{at}mayo.edu.
Rationale: Pulmonary lymphangioleiomyomatosis is a progressive cystic lung disease that is associated with infiltration of atypical smooth muscle-like cells. Previous descriptions of clinical characteristics of subjects with lymphangioleiomyomatosis have been based on a limited number of patients.
Objectives: To describe the clinical characteristics of subjects with pulmonary lymphangioleiomyomatosis, both sporadic and tuberous sclerosis-related forms.
Methods: Over a three-year period from 1998 to 2001, 243 subjects with pulmonary lymphangioleiomyomatosis were enrolled into a national Registry; 13 subjects who had already undergone lung transplantation were excluded for the purposes of this report.
Measurements and Main Results: All 230 subjects were women, aged 18 to 76 years (mean ± SE, 44.5 ± 0.65 years). The average age at onset of symptoms was 38.9 ± 0.73 years and at diagnosis was 41.0 ± 0.65 years. Tuberous sclerosis complex was present in 14.8% of subjects. Pulmonary manifestations, most commonly spontaneous pneumothorax, were the primary events leading to the diagnosis in 86.5% of cases. Nearly 55% of the subjects were being treated with a progesterone derivative. An obstructive pattern on pulmonary function testing was observed in 57.3% of the subjects, while 33.9% had normal spirometric results. Women with tuberous sclerosis-related lymphangioleiomyomatosis were younger and had less impaired lung function compared to those with the sporadic form.
Conclusions: The age range of women afflicted with pulmonary lymphangioleiomyomatosis is broader than previously appreciated and the degree of pulmonary function can be quite variable, with one-third of subjects having normal spirometry at enrollment into this Registry.
Key words: lymphangioleiomyomatosis, tuberous sclerosis, registry.
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Copyright © 2005 American Thoracic Society
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