Delayed diagnosis of females with respiratory presentation of cystic fibrosis did not segregate with poorer clinical outcome

Abstract 

Objective

Does a delay in diagnosis exist in females with cystic fibrosis (CF) presenting with respiratory symptoms alone. Does it segregate with poorer clinical outcomes?

Study Design and Setting

A set of 3,851 patients registered with the UK CF Database (diagnosed 1986–2003) were divided into four mutually exclusive categories by mode of presentation: meconium ileus or distal intestinal obstruction syndrome (MI/DIOS); positive family history; newborn screening; and symptoms excluding MI/DIOS. The last symptom category was subdivided to create a group for respiratory symptoms alone.

Results

Females presenting with respiratory symptoms alone were diagnosed 9 months later than males (median age of diagnosis in males 22 months, n = 325; females, 31 months, n = 322; P = .028). No gender differences were observed for anthropometric, lung function, microbiological, supplemental feeding, or time since diagnosis using discriminant analysis applied to all patients (n = 461, Wilks' λ = .97, P = .15) or to patients divided by genotype: ΔF508/ΔF508 (n = 168, Wilks' λ = .97, P = .69), class I–III genotype (n = 251, Wilks' λ = .96, P = .41), or class IV–V genotype (n = 73, Wilks' λ = .90, P = .50) presenting with respiratory symptoms alone.

Conclusions

A relative delay in diagnosis exists in female patients presenting with respiratory symptoms alone compared with males. This does not, however, segregate with a significantly poorer clinical phenotype in the UK.

Keywords: Cystic fibrosis, Age of diagnosis, Respiratory, Outcomes, Genotype