Effects of gender and age at diagnosis on disease progression in long-term survivors of cystic fibrosis

Am J Respir Crit Care Med. 2010 Sep 1;182(5):614-26. doi: 10.1164/rccm.201001-0092OC. Epub 2010 May 6.


Rationale: 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.

Objectives: 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).

Measurements and main 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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age Distribution
  • Age of Onset
  • Aged
  • Colorado / epidemiology
  • Cystic Fibrosis / complications
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / epidemiology
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Disease Progression
  • Female
  • Humans
  • Male
  • Middle Aged
  • Patient Acceptance of Health Care
  • Registries
  • Retrospective Studies
  • Severity of Illness Index
  • Sex Distribution
  • Survivors / statistics & numerical data*


  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator