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Cystic fibrosis

Background

Overview

Definition
CF is an inherited multiorgan disease characterized by recurrent cough, wheeze, and pneumonia, sinusitis, and male infertility.
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Pathophysiology
CF is caused by a mutation in the CFTR gene.
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Disease course
Genetic mutations in CFTR gene result in CF, which causes clinical manifestations of recurrent respiratory symptoms of cough, wheeze, and pneumonias, nasal polyps, sinusitis, finger clubbing, male infertility, exocrine pancreatic insufficiency (steatorrhea, diarrhea, abdominal distension, poor growth in infants, pancreatitis), GERD, meconium ileus, distal intestinal obstruction syndrome, celiac disease, malabsorption, Crohn's disease, constipation, rectal prolapse, fatty liver, cirrhosis, diabetes, osteopenia, acute collapse, vaginal candidiasis, and stress incontinence. Disease progression may lead to death.
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Prognosis and risk of recurrence
The in-hospital mortality of CF is 0.71%.
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Guidelines

Key sources

The following summarized guidelines for the evaluation and management of cystic fibrosis are prepared by our editorial team based on guidelines from the American Diabetes Association (ADA 2024), the International Society for Heart and Lung Transplantation (ISHLT 2021), the Clinical Pharmacogenetics Implementation Consortium (CPIC 2014), the National Society of Genetic Counselors (NSGC 2014), and the Cystic Fibrosis Foundation (CFF 2013). ...
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Screening and diagnosis

Carrier testing: as per NSGC 2014 guidelines, offer carrier testing for CF to:
women of reproductive age, regardless of ancestry, and preferably preconceptionally
individuals with a family history of CF
partners of mutation carriers and people with CF.
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Diagnostic investigations

Genetic testing: as per NSGC 2014 guidelines, review and re-interpret prior carrier screening results in light of current knowledge when individuals present for genetic counseling. The inclusion and exclusion of mutations on available CFTR mutation screening panels remains a dynamic process as new information is learned about the pathogenicity of CFTR mutations.

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  • Screening for diabetes

Medical management

Ivacaftor: as per CPIC 2014 guidelines, use ivacaftor according to the product label (150 mg every 12 h) for patients ≥ 6 years without other diseases; adjust dosing as appropriate in patients with hepatic impairment.
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  • Dornase alfa

  • Inhaled hypertonic saline

  • Inhaled tobramycin

  • Inhaled aztreonam

  • Other inhaled antibiotics

  • Prophylactic azithromycin

  • Other prophylactic oral antibiotics

  • ICSs

  • Oral corticosteroids

  • Leukotriene modifiers

  • Inhaled anticholinergics

  • Inhaled beta-2 adrenergic receptor agonists

  • Oral antistaphylococcal antibiotics

  • N-acetylcysteine and glutathione

  • Ibuprofen

Surgical interventions

Lung transplantation: as per ISHLT 2021 guidelines, refer patients with CF meeting any of the following criteria despite optimal medical management including a trial of elexacaftor, tezacaftor, or ivacaftor (if eligible) for lung transplantation:
FEV1 < 30% predicted in adults (< 40% predicted in children)
FEV1 < 40% predicted in adults (< 50% predicted in children) and any of the following: six-minute walk distance < 400 m, PaCO2 > 50 mmHg, resting or exertional hypoxemia, pulmonary hypertension (pulmonary artery systolic pressure > 50 mmHg on echocardiogram or evidence of RV dysfunction), worsening nutritional status despite supplementation, two exacerbations per year requiring IV antibiotics, massive hemoptysis (> 240 mL) requiring bronchial artery embolization, or pneumothorax
FEV1 < 50% predicted and rapidly declining based on pulmonary function testing or progressive symptoms
any exacerbation requiring positive pressure ventilation.
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Patient education

Post-carrier screening counseling: as per NSGC 2014 guidelines, genetic counselors offering CF carrier screening should ensure that they are providing the most current information to patients regarding the range of symptoms, potential treatment options, and QoL issues associated with CF and the CFTR-related disease spectrum.