• Cystic fibrosis (CF) is a progressive, autosomal recessive disease caused by impaired chloride ion transport with multiple organ system involvement.
• The major source of morbidity and mortality is attributed to progressive obstructive pulmonary disease precipitated by chronic inflammation, infection, and destruction of airways.

• Autosomal recessive disorder
• More common in Caucasians; it is the most common lethal inherited disease in Caucasians
• Presence of meconium ileus, tobacco use, and female gender are associated with a more rapidly progressing disease course

• Mutation of the Cystic Fibrosis Transmembrane Regulator (CFTR) gene on Chromosome 7 can result in CF. Defects result in abnormal chloride channel proteins, and impaired cAMP-regulated chloride transport across epithelial cells. Thousands of different mutations exist; however, 75% of cases are due to deletion of phenylalanine ( 508) (2).
• Mutations lead to decreased chloride secretion and increased absorption of cations, such as sodium, and water back into the cell. Although there are multiple theories, there is no consensus on the pathophysiology of clinical symptoms.
• Mutations result in abnormally thick and sticky mucus that can build up in the exocrine glands of the lungs, pancreas, hepatic, and GI tract. See section "Concomitant Organ Dysfunction."

• Preoperatively, assess and treat concomitant organ system dysfunction. The pulmonary system requires careful preoperative evaluation; optimization may involve the use of bronchodilators, incentive spirometry, and postural drainage.
• Intraoperatively, limit airway manipulation, humidify the airway, adequately hydrate, and adjust ventilator settings in order to increase alveolar recruitment. Avoid atelectasis and other parameters that may exacerbate obstructive lung disease.
• Postoperatively, ensure adequate reversal of neuromuscular blocking drugs (NMBDs) and avoid prolonged post-op intubation if possible, as it increases morbidity and mortality.
• Regional or neuraxial techniques should be considered to provide pain relief while limiting opioid use due to their depressive effect on the respiratory system.

• Presence of cough
• Quality and quantity of mucous
• Dyspnea, paroxysmal nocturnal dyspnea (PND), orthopnea

• Oxygen therapy
• CPAP/BIPAP use
• Chest physiotherapy
• Lung transplantation

• Steroids
• B-agonists and other bronchodilators
• Recombinant DNAse (cleaves mucous)
• Theophylline
• Antibiotics
• Insulin or oral hypoglycemic
• Pancreatic enzyme replacement

• Airway manifestations include an increased incidence of nasal polyps and chronic sinusitis. Nasal mucosa hypertrophy and hyperplasia may also be present.
• Pulmonary disease manifests as airway obstruction, bacterial colonization, atelectasis, and hypoxia. It results from an increase in goblet cells and mucus production. PFTs demonstrate an obstructive pattern with decreased FEV₁, vital capacity, and peak flows as well as increased RV.
  • Although there are multiple hypotheses, there is no consensus on why bacterial colonization occurs, most commonly with organisms Pseudomonas aeruginosa, Haemophilus influenza, and Staphylococcus aureus.
  • Chronic disease leads to pulmonary hypertension and cor pulmonale; patients often require lung transplantation.
• Pancreatic disease manifests as exocrine and endocrine dysfunction secondary to impaired bicarbonate secretion. The retention of digestive enzymes can cause autodigestion with an increased risk for pancreatitis.
  • Pancreatic exocrine dysfunction describes protein and fat malabsorption, failure to thrive, deficiency of fat soluble vitamins (A, D, E, K)
  • Pancreatic endocrine dysfunction describes pancreatic beta-cell destruction and can often lead to diabetes mellitus (DM). Approximately 30% of patients develop DM by age 30 (2).
• Hepatobiliary disease manifests as cholelithiasis and cholecystitis from pancreatic duct stenosis as well as cirrhosis, and hepatocellular carcinoma. Cirrhosis is the second most common cause of death and is present in 10% of patients; abnormal LFTs are seen in 33% of patients; fatty infiltration is present in 70% of patients.
• GI tract disease presents as meconium ileus; thickened feces can result in distal intestinal obstruction syndrome. There is a high incidence of GERD.
• Musculoskeletal abnormalities present as low bone mineral density, kyphosis, scoliosis, and rib fractures. This results from a combination of decreased vitamin D absorption, lack of exercise, chronic steroid therapy, and low androgen levels.
• Coagulation abnormalities can manifest from pancreatic dysfunction (impaired absorption of vitamin K) and hepatic disease.
• (In)Fertility. The majority of males are infertile due to the absence of a vas deferens. Females have thick cervical mucus that often prevents pregnancy.

Pregnancy Considerations

• Acute pulmonary exacerbation
• LFTs greater than 1.5 times normal should be investigated (2) [C].
• Coagulopathies should be corrected

See ICD9 section

• Patients with mild disease and less complex procedures may be discharged home after being monitored in the PACU (2) [C].
• Patients with more severe pulmonary disease or those undergoing more invasive procedures should be monitored either in an intensive care unit (ICU) or monitored bed (4) [C].

• Chest physiotherapy, CXR
• Consider pulmonary consultation if postoperative mechanical ventilation is required.

• Respiratory depression, airway obstruction, atelectasis, pneumonia, pneumothorax
• Postoperative jaundice

• Ciliary Function
• Chloride
• Cor Pulmonale

• 277.00 Cystic fibrosis without mention of meconium ileus
• 277.01 Cystic fibrosis with meconium ileus
• 277.02 Cystic fibrosis with pulmonary manifestations

• E84.0 Cystic fibrosis with pulmonary manifestations
• E84.9 Cystic fibrosis, unspecified
• E84.11 Meconium ileus in cystic fibrosis

Matthew Delph , MD

Neal Campbell , MD