title: Severity and outcome of cystic lung disease in women with tuberous sclerosis complex.
abstract: What are the clinical features, severity, and rate of progression of lung disease in women with tuberous sclerosis and lymphangioleiomyomatosis (LAM) and how do they differ from patients with sporadic LAM? Data from 94 tuberous sclerosis/LAM and 460 sporadic LAM women were compared. 40 tuberous sclerosis/LAM and 40 sporadic LAM patients were age- and lung function-matched, and changes in volume occupied by cysts (cyst score) and pulmonary function occurring over 6.5 years were evaluated. Tuberous sclerosis/LAM patients had better lung function than sporadic LAM patients, but no difference was observed from sporadic LAM patients in yearly rates of change in forced expiratory volume in 1 s (-1.9±2.7 versus -1.9±1.9% predicted; p=0.302), diffusing capacity of the lung for CO (-2.1±2.8 versus -1.9±2.7% predicted; p=0.282) or cyst scores (+1.0±1.3 versus +1.4±1.7%, p=0.213). However, the proportion of patients with abnormal lung function and higher rates of FEV1 decline was greater in sporadic LAM. Some young tuberous sclerosis/LAM patients (mean age 25.7±3 years) progressed rapidly from minimal to severe lung disease. Tuberous sclerosis/LAM patients may experience abrupt declines in lung function. Consequently, women with tuberous sclerosis found to have lung cysts should undergo periodic functional and radiological testing to follow disease progression and determine need for therapy.
authors.affiliation: Cardiovascular and Pulmonary Branch, National Institutes of Health Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA dasilvaa@nhlbi.nih.gov.
authors.forename: Angelo M
authors.initials: AM
authors.lastname: Taveira-DaSilva
authors.affiliation: Cardiovascular and Pulmonary Branch, National Institutes of Health Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Amanda M
authors.initials: AM
authors.lastname: Jones
authors.affiliation: Cardiovascular and Pulmonary Branch, National Institutes of Health Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Patricia
authors.initials: P
authors.lastname: Julien-Williams
authors.affiliation: Radiology and Imaging Sciences Department, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Jianhua
authors.initials: J
authors.lastname: Yao
authors.affiliation: Office of Biostatistics Research, National Institutes of Health Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Mario
authors.initials: M
authors.lastname: Stylianou
authors.affiliation: Cardiovascular and Pulmonary Branch, National Institutes of Health Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Joel
authors.initials: J
authors.lastname: Moss
mesh_terms: D000293:Adolescent; D000328:Adult; D002319:Cardiovascular System; D015331:Cohort Studies; D018450:Disease Progression; D005080:Exercise Test; D005260:Female; D005541:Forced Expiratory Volume; D006801:Humans; D008168:Lung / Q000000981:diagnostic imaging / Q000503:physiopathology; D008171:Lung Diseases / Q000503:physiopathology / Q000628:therapy*; D018192:Lymphangioleiomyomatosis / Q000150:complications / Q000628:therapy*; D008875:Middle Aged; D012129:Respiratory Function Tests; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome; D014402:Tuberous Sclerosis / Q000150:complications / Q000628:therapy*; D055815:Young Adult