TO THE EDITOR:
The Case Record by Mojica et al. (Dec. 27 issue)1 highlights the importance of considering the diagnosis of cystic fibrosis in adults. We reviewed 842 cases of cystic fibrosis in our electronic health record (EHR) and found that 8.4% were diagnosed in patients older than 30 years of age. Among 368 patients who received a diagnosis of cystic fibrosis at Vanderbilt University Medical Center, the age at diagnosis has increased over time, including one woman who recently received a diagnosis at 80 years of age. Case presentation and genetics varied according to age, a finding consistent with other reports.2,3 Pulmonary symptoms predominated in patients older than 30 years of age, of whom 91% did not have the ΔF508 CFTR mutation. Meconium ileus and failure to thrive predominated in newborns, of whom 71% were homozygous for the ΔF508 mutation.
Diagnosing cystic fibrosis in adults can be difficult. We have proposed that combining multiple EHR phenotypes into a “phenotype risk score” may facilitate earlier identification of these patients.4 Indeed, the 47-year-old woman who was described in the Case Record had a phenotype risk score in the 98th percentile for cystic fibrosis.
Footnotes
No potential conflict of interest relevant to this letter was reported.
References
- 1.Case Records of the Massachusetts General Hospital (Case 40-2018). N Engl J Med 2018;379:2558–65.30586519 [Google Scholar]
- 2.Jain R. Diagnosing cystic fibrosis in adults: better late than never. Ann Am Thorac Soc 2018;15:1140–1. [DOI] [PubMed] [Google Scholar]
- 3.Rodman DM, Polis JM, Heltshe SL, et al. Late diagnosis defines a unique population of long-term survivors of cystic fibrosis. Am J Respir Crit Care Med 2005;171:621–6. [DOI] [PubMed] [Google Scholar]
- 4.Bastarache L, Hughey JJ, Hebbring S, et al. Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. Science 2018;359:1233–9. [DOI] [PMC free article] [PubMed] [Google Scholar]