Effects of gender and age at diagnosis on disease progression in long-term survivors of cystic fibrosis.
BACKGROUND
Long-term survivors of cystic fibrosis (CF) (age > 40 yr) are a growing population comprising both patients diagnosed with classic manifestations in childhood, and nonclassic phenotypes typically diagnosed as adults. Little is known concerning disease progression and outcomes in these cohorts.


OBJECTIVE
Examine effects of age at diagnosis and gender on disease progression, setting of care, response to treatment, and mortality in long-term survivors of CF.


METHODS
Retrospective analysis of the Colorado CF Database (1992-2008), CF Foundation Registry (1992-2007), and Multiple Cause of Death Index (1992-2005).


RESULTS
Patients with CF diagnosed in childhood and who survive to age 40 years have more severe CFTR genotypes and phenotypes compared with adult-diagnosed patients. However, past the age of 40 years the rate of FEV(1) decline and death from respiratory complications were not different between these cohorts. Compared with males, childhood-diagnosed females were less likely to reach age 40 years, experienced faster FEV(1) declines, and no survival advantage. Females comprised the majority of adult-diagnosed patients, and demonstrated equal FEV(1) decline and longer survival than males, despite a later age at diagnosis. Most adult-diagnosed patients were not followed at CF centers, and with increasing age a smaller percentage of CF deaths appeared in the Cystic Fibrosis Foundation Registry. However, newly diagnosed adults demonstrated sustained FEV(1) improvement in response to CF center care.


CONCLUSIONS
For patients with CF older than 40 years, the adult diagnosis correlates with delayed but equally severe pulmonary disease. A gender-associated disadvantage remains for females diagnosed in childhood, but is not present for adult-diagnosed females.
Nick
Jerry A
JA
Adult Cystic Fibrosis Program, National Jewish Health, 1400 Jackson Street, Denver, CO 80206, USA. nickj@njhealth.org
Chacon
Cathy S
CS
Brayshaw
Sara J
SJ
Jones
Marion C
MC
Barboa
Christine M
CM
St Clair
Connie G
CG
Young
Robert L
RL
Nichols
David P
DP
Janssen
Jennifer S
JS
Huitt
Gwen A
GA
Iseman
Michael D
MD
Daley
Charles L
CL
Taylor-Cousar
Jennifer L
JL
Accurso
Frank J
FJ
Saavedra
Milene T
MT
Sontag
Marci K
MK
D000328:Adult; D017677:Age Distribution; D017668:Age of Onset; D000368:Aged; D003120:Colorado / Q000453:epidemiology; D003550:Cystic Fibrosis / Q000150:complications / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D018450:Disease Progression; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010342:Patient Acceptance of Health Care; D012042:Registries; D012189:Retrospective Studies; D012720:Severity of Illness Index; D017678:Sex Distribution; D017741:Survivors / Q000706:statistics & numerical data*
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator
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