Late Diagnosis Defines a Unique Population of Long-term Survivors of Cystic Fibrosis

Abstract

Although the median survival for patients with cystic fibrosis (CF) is 32.9 years, a small group of patients live much longer. We analyzed the genotype and phenotype of CF patients 40 years and older seen between 1992 and 2004 at the National Jewish Medical and Research Center (n = 55). These patients were divided into two groups according to age at diagnosis: an early diagnosis (ED) group, median age at diagnosis 2.0 years (range 0.1-15 years, n = 28), and a late diagnosis (LD) group, median age of diagnosis 48.8 years (range 24-72.8 years, n = 27). Consistent with the hypothesis that the CFTR genotype affects the age at diagnosis, CFTR DeltaF508 homozygous individuals were more common in the ED group. Although patients in the ED group were predominantly male, the majority of LD patients were female. Patients with CF diagnosed late had a significantly lower prevalence of pancreatic insufficiency and CF-related diabetes, and better lung function. Fewer patients in the LD groups were infected with Pseudomonas aeruginosa, whereas a greater percentage had cultures positive for nontuberculous mycobacteria. This is the largest cohort of older patients with CF described to date, and our findings indicate that patients diagnosed as adults differ distinctly from survivors of long-term CF diagnosed as children.

Cystic fibrosis and survival to 40 years: a case–control study

“…We elected to study only patients whose disease had been diagnosed during childhood, and thus remove the bias associated with the good prognosis of disease when diagnosed in adulthood [10,11]. Moreover, by studying long-term survivors under the care of a single institution and by matching them with ''controls'' born within a year of their birth date, we reduced the effects of different adult treatment strategies between centres and changing strategies over time, each of which may have independent effects on survival [9].…”

Classic Respiratory Disease but Atypical Diagnostic Testing Distinguishes Adult Presentation of Cystic Fibrosis

“…Gan et al, 6 Gilljam et al, 4 and Rodman et al 7 found decreased incidence of P aeruginosa in patients with a delayed diagnosis of CF in their adult CF centers. In the US cohort described here, P aeruginosa , specifi cally the mucoid variant, was found at a striking prevalence rate of 50% in adult sputum cultures.…”

“…Studies from the United Kingdom, Denmark, Canada, and the United States have shown that patients with CF diagnosed later in life represent a distinct population genetically and clinically. [4][5][6][7] A recent study by Rodman et al 7 described a cohort of 27 patients diagnosed in adulthood with higher lung function, less pancreatic insuffi ciency, and lower prevalence of Pseudomonas aeruginosa in their sputum, suggesting that adult onset is milder.…”

Cystic Fibrosis: The Dawn of a New Therapeutic Era

“…In subjects with CF who are 40 years of age and older, the median age at diagnosis has been reported to be 48.8 years (20); these persons are much more likely to have a nonclassical, milder CF phenotype (21). In addition to these changes, survival even among patients with CF with severe lung disease (defined as an FEV 1 less than 30% of predicted) is improving, with median survival without lung transplantation improving from 1.2 to 5.3 years from 1991 to 2002 (22,23).…”