22nd February 2024

Presentation

Clinical Features

Respiratory symptoms

Frequent respiratory tract infections are a hallmark of cystic fibrosis patients. CF is the most common cause of bronchopulmonary infection in childhood and a major cause in early adult life. Sinusitis and nasal polyps are common manifestations. Shortness of breath, reduced exercise tolerance, fatigue, chronic productive cough and haemoptysis occur later once airway flow limitation and bronchiectasis develop. Spontaneous and secondary pneumothorax may also occur. Respiratory failure, cor-pulmonale and use of long-term oxygen eventually develop.

Gastrointestinal symptoms

Multiple gastrointestinal organs contain CFTR epithelial channels.

Common gastrointestinal associations with CF:

• Steatorrhea
• Development of diabetes mellitus
• Meconium ileus
• Pancreatitis 
• Fatty liver which can lead to liver cirrhosis
• Chronic malabsorption and maldigestion
• Meconium ileus and bowel obstruction

Other features 

Males are more likely to be affected by infertility due to failure of development of the vas deferens and the epididymis. Females can conceive but are likely to develop secondary amenorrhea as the disease progresses. Osteoporosis can also be found due to skeletal maturity delay and arthropathy can occur later during disease.

CF patients are at increased risk of anaemia. Mechanisms can include dysregulation of iron stores, anaemia associated with chronic disease, increased risk of haemoptysis and potential marrow suppression from immunosuppressives in post-lung transplant patients. CF can also be linked with autoimmune conditions such as rheumatoid arthritis. 

References

• Uijterschout L, Nuijsink M, Hendriks D, et al. Iron deficiency occurs frequently in children with cystic fibrosis. Pediatr Pulmonol 2014; 49:458.
• Grey V, Atkinson S, Drury D, et al. Prevalence of low bone mass and deficiencies of vitamins D and K in pediatric patients with cystic fibrosis from 3 Canadian centers. Pediatrics 2008; 122:1014.
• Merkel PA. Rheumatic disease and cystic fibrosis. Arthritis Rheum 1999; 42:1563.