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The NHLBI Lymphangioleiomyomatosis Registry

Characteristics of 230 Patients at Enrollment

Division of Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, Minnesota; Pulmonary-Critical Care Medicine Branch, and Biostatistics Research Branch, Division of Epidemiology and Clinical Applications, National Heart, Lung, and Blood Institute; Division of Lung Diseases, National Heart, Lung, and Blood Institute Project Office; Department of Diagnostic Radiology, Warren G. Magnuson Clinical Center, National Institutes of Health, Bethesda, MD; Departments of Quantitative Health Sciences and Critical Care and Pulmonary Medicine, Cleveland Clinic Foundation, Cleveland; Division of Pulmonary and Critical Care Medicine, University of Cincinnati, Cincinnati, Ohio; National Jewish Medical and Research Center, Denver, Colorado; Pulmonary and Critical Care Division, New England Medical Center, Boston, Massachusetts; Division of Pulmonary and Critical Care Medicine, Stanford University Medical Center, Stanford, California; and CIGNA HealthCare, Bloomfield, Connecticut

Correspondence and requests for reprints should be addressed to Jay H. Ryu, M.D., Division of Pulmonary and Critical Care Medicine, Desk East 18, Mayo Clinic, 200 1st Street SW, Rochester, MN 55905. 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 3-yr 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 yr (mean ± SE, 44.5 ± 0.65 yr). The average age at onset of symptoms was 38.9 ± 0.73 yr and at diagnosis was 41.0 ± 0.65 yr. 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, whereas 33.9% had normal spirometric results. Women with tuberous sclerosis–related lymphangioleiomyomatosis were younger and had less impaired lung function compared with 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 • registry • tuberous sclerosis

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