title: The NHLBI lymphangioleiomyomatosis registry: characteristics of 230 patients at enrollment.
abstract: 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.
authors.affiliation: Division of Pulmonary and Critical Care Medicine, Desk East 18, Mayo Clinic, 200 1st Street SW, Rochester, MN 55905, USA. ryu.jay@mayo.edu
authors.forename: Jay H
authors.initials: JH
authors.lastname: Ryu
authors.forename: Joel
authors.initials: J
authors.lastname: Moss
authors.forename: Gerald J
authors.initials: GJ
authors.lastname: Beck
authors.forename: Jar-Chi
authors.initials: JC
authors.lastname: Lee
authors.forename: Kevin K
authors.initials: KK
authors.lastname: Brown
authors.forename: Jeffrey T
authors.initials: JT
authors.lastname: Chapman
authors.forename: Geraldine A
authors.initials: GA
authors.lastname: Finlay
authors.forename: Eric J
authors.initials: EJ
authors.lastname: Olson
authors.forename: Stephen J
authors.initials: SJ
authors.lastname: Ruoss
authors.forename: Janet R
authors.initials: JR
authors.lastname: Maurer
authors.forename: Thomas A
authors.initials: TA
authors.lastname: Raffin
authors.forename: Hannah H
authors.initials: HH
authors.lastname: Peavy
authors.forename: Kevin
authors.initials: K
authors.lastname: McCarthy
authors.forename: Angelo
authors.initials: A
authors.lastname: Taveira-Dasilva
authors.forename: Francis X
authors.initials: FX
authors.lastname: McCormack
authors.forename: Nilo A
authors.initials: NA
authors.lastname: Avila
authors.forename: Rosamma M
authors.initials: RM
authors.lastname: Decastro
authors.forename: Susan S
authors.initials: SS
authors.lastname: Jacobs
authors.forename: Mario
authors.initials: M
authors.lastname: Stylianou
authors.forename: Barry L
authors.initials: BL
authors.lastname: Fanburg
mesh_terms: 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