The NHLBI lymphangioleiomyomatosis registry: characteristics of 230 patients at enrollment.
BACKGROUND
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.


OBJECTIVE
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.


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.
Ryu
Jay H
JH
Division of Pulmonary and Critical Care Medicine, Desk East 18, Mayo Clinic, 200 1st Street SW, Rochester, MN 55905, USA. ryu.jay@mayo.edu
Moss
Joel
J
Beck
Gerald J
GJ
Lee
Jar-Chi
JC
Brown
Kevin K
KK
Chapman
Jeffrey T
JT
Finlay
Geraldine A
GA
Olson
Eric J
EJ
Ruoss
Stephen J
SJ
Maurer
Janet R
JR
Raffin
Thomas A
TA
Peavy
Hannah H
HH
McCarthy
Kevin
K
Taveira-Dasilva
Angelo
A
McCormack
Francis X
FX
Avila
Nilo A
NA
Decastro
Rosamma M
RM
Jacobs
Susan S
SS
Stylianou
Mario
M
Fanburg
Barry L
BL
D000293:Adolescent; D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D008171:Lung Diseases / Q000175:diagnosis / Q000453:epidemiology; D018192:Lymphangioleiomyomatosis / Q000175:diagnosis / Q000453:epidemiology; D008875:Middle Aged; D011788:Quality of Life; D012042:Registries; D012129:Respiratory Function Tests; D014481:United States / Q000453:epidemiology