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, NHLBI LAM Registry Group, 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, NHLBI LAM Registry Group
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.
Source: PubMed