The NHLBI lymphangioleiomyomatosis registry: Characteristics of 230 patients at enrollment

Jay H. Ryu, Joel Moss, Gerald J. Beck, Jar Chi Lee, Kevin K. Brown, Jeffrey T. Chapman, Geraldine A. Finlay, Eric J. Olson, Stephen J. Ruoss, Janet R. Maurer, Thomas A. Raffin, Hannah H. Peavy, Kevin McCarthy, Angelo Taveira-DaSilva, Francis X. McCormack, Nilo A. Avila, Rosamma M. DeCastro, Susan S. Jacobs, Mario Stylianou, Barry L. Fanburg

Research output: Contribution to journalArticlepeer-review

302 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)105-111
Number of pages7
JournalAmerican journal of respiratory and critical care medicine
Volume173
Issue number1
DOIs
StatePublished - Jan 1 2006

Keywords

  • Lymphangioleiomyomatosis
  • Registry
  • Tuberous sclerosis

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine
  • Critical Care and Intensive Care Medicine

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