Atypical presentation of cystic fibrosis at 70 years of age

Abstract

Cystic fibrosis (CF) is an autosomal recessive condition, mostly diagnosed in infancy. It is uncommon for adults to be diagnosed with CF, especially after the age of 65. Individuals, who are diagnosed later in life, usually have milder disease and single organ involvement which can be challenging for clinicians to diagnose. Adult CF patients are more likely to be pancreatic sufficient. They have predominantly upper lobe bronchiectasis, lower incidence of Pseudomonas aeruginosa compared with Staphylococcus aureus and are more likely to have mutations other than ΔF508.

Prognostic imagination: Genetic counseling amidst therapeutic innovation and evolving futures

“…Despite the moniker of “precision medicine,” genetic diagnoses are often inexact with respect to prognosis. For example, cystic fibrosis is frequently described with reference to median life expectancy, yet even in CF there are atypical presentations (Saleem et al, 2019), newborns who screen positive with minimally penetrant variants (Farrell et al, 2017; Hatton et al, 2022), adults with classical CF with mild lung impairment, and a growing number of patients benefiting from long‐term use of CFTR‐modulator therapies, which treat the disease's underlying cause for individuals with specific genotypes (Volkova et al, 2020). Even before CFTR‐modulator therapies, the demographics of CF were changing as enhanced management turned a pediatric disease into a disease of children and adults.…”