Clinical manifestations of cystic fibrosis

Cystic fibrosis is a disorder that affects multiple body systems1 and can progress with age, requiring multidisciplinary care and age-specific expertise to treat patients appropriately.2

Clinical manifestations can change with age of the patient2

Please click on the age range below (age in years) to see when the clinical manifestations of cystic fibrosis begin.

Morbidity and mortality

Morbidity and mortality are mainly caused by bronchiectasis, small airways obstruction, and progressive respiratory impairment. Important comorbidities caused by epithelial cell dysfunction occur in the pancreas (malabsorption), liver (biliary cirrhosis), sweat glands (heat shock), and vas deferens (infertility)2

Human BodyButtonAbsence of vas deferensReproductive systemMeconium ileusGutPancreatic exocrine insufficiencyPancreasAbnormal liver function test resultsLiverStaphylococcus aureusPredominant infectionsEarly mucinous plugging;BronchiectasisLung and airwaysCirrhosisLiverStaphylococcus aureus;IntermittentPseudomonas aeruginosaPredominant infectionsEstablished bronchiectasisLung and airwaysArthropathy and cystic fibrosis–related bonedisease (osteoporosis)OtherDistal intestinal obstruction syndromeGutCystic fibrosis–related diabetes mellitusPancreasPortal hypertension (5–10%)LiverPseudomonas aeruginosa;Other non-fermenting Gram-negative bacteria;Allergic bronchopulmonary aspergillosisPredominant infectionsEstablished bronchiectasis with haemoptysis;PneumothoraxLung and airwaysLiver transplantLiverProgressive respiratory failure;Lung transplantLung and airwaysLung and airwaysEarly mucinous plugging;BronchiectasisPredominant infectionsStaphylococcus aureusLiverAbnormal liver function testresultsPancreasPancreatic exocrineinsufficiencyGutMeconium ileusReproductive systemAbsence of vas deferensLung and airwaysEstablished bronchiectasisPredominant infectionsStaphylococcus aureus;IntermittentPseudomonasaeruginosaLiverCirrhosisLung and airwaysEarly mucinous plugging;BronchiectasisPredominant infectionsPseudomonas aeruginosa;Other non-fermenting Gram-negativebacteria; Allergic bronchopulmonaryaspergillosis;LiverPortal hypertension (5–10%)PancreasCystic fibrosis–relateddiabetes mellitusGutDistal intestinal obstructionsyndromeOtherArthropathy and cysticfibrosis–related bone disease(osteoporosis)Lung and airwaysProgressive respiratory failure;Lung transplantLiverLiver transplant

Algorithm for differential diagnosis of cystic fibrosis1

Infographic-high-res_updated_26-07-2021-crop.svg
  1. Farrell PM, et al. Diagnosis of cystic fibrosis: consensus guidelines from the Cystic Fibrosis Foundation. J Pediatr. 2017;181S:S4-S15.
  2. Elborn JS, Cystic fibrosis. Lancet. 2016;388(10059):2519-2531. 
Infographic-high-res_updated-11-08-2021.svg
  1. Farrell PM, et al. Diagnosis of cystic fibrosis: consensus guidelines from the Cystic Fibrosis Foundation. J Pediatr. 2017;181S:S4-S15.
  2. Elborn JS, Cystic fibrosis. Lancet. 2016;388(10059):2519-2531.