Cystic Fibrosis Treatment & Management

  • Author: Girish D Sharma, MD; Chief Editor: Michael R Bye, MD   more...
 
Updated: May 15, 2012
 

Approach Considerations

As a result of the complex and multisystemic involvement of cystic fibrosis (CF) and the need for care by specialists, treatment and follow-up care at specialty centers with multidisciplinary care teams (ie, cystic fibrosis centers) is recommended.

At the time of initial confirmation of the diagnosis, the patient should undergo baseline assessment, investigations, and initiation of therapy. In addition, patient/parent education, including counseling and instructions regarding airway clearance techniques and the use of equipment (eg, nebulizer, spacer for metered-dose inhaler), is recommended.

When a patient presents with complications necessitating hospital admission, these objectives can be obtained during hospitalization. Follow-up outpatient visits are scheduled at 2-3 monthly intervals. Hospital admission is required for treatment of acute pulmonary exacerbation and severe complications.

The primary goals of CF treatment include the following:

  • Maintaining lung function as near to normal as possible by controlling respiratory infection and clearing airways of mucus
  • Administering nutritional therapy (ie, enzyme supplements, multivitamin and mineral supplements) to maintain adequate growth
  • Managing complications

Mild acute pulmonary exacerbations of cystic fibrosis can be treated successfully at home with the following measures:

  • Increasing the frequency of airway clearance
  • Inhaled bronchodilator treatment
  • Chest physical therapy and postural drainage
  • Increasing the dose of the mucolytic agent dornase alfa (Pulmozyme)
  • Use of oral antibiotics (eg, oral fluoroquinolones)

Medications used to treat patients with cystic fibrosis may include the following:

  • Pancreatic enzyme supplements
  • Multivitamins (including fat-soluble vitamins)
  • Mucolytics
  • Nebulized, inhaled, oral, or intravenous antibiotics
  • Bronchodilators
  • Anti-inflammatory agents
  • Agents to treat associated conditions or complications (eg, insulin)
  • Agents devised to potentially reverse the abnormalities in chloride transport (eg, ivacaftor[37] )

In addition to mucolytics such as dornase alfa, hypertonic saline inhalation has been proposed as a therapy to increase hydration of airway surface liquid in patients with CF.[38] Elkins et al reported that patients receiving 7% hypertonic saline (4 mL via nebulizer bid) had improved lung function and fewer pulmonary exacerbations, compared with patients receiving normal saline in a similar fashion.[39] Hypertonic saline was not associated with worsening bacterial infections or inflammation.

The Pulmonary Therapies Committee of Cystic Fibrosis Foundation recommends long-term use of hypertonic saline for patients with cystic fibrosis aged 6 years or older to improve lung function and to reduce the number of exacerbations.[40]

When meconium ileus is diagnosed prenatally, the authors recommend immediate referral to a tertiary care facility equipped to manage the needs of the mother, fetus, neonate, and family. A multidisciplinary team of perinatologists, neonatologists, obstetricians, pediatric surgeons, and CF specialists is prepared for the delivery of these high-risk neonates.

The team performs serial sonographic examinations on a monthly basis prior to delivery, a procedure that allows early detection of potential complications to prepare clinicians for special or urgent medical or surgical needs upon delivery.

A new agent, ivacaftor (Kalydeco), was approved by the US Food and Drug Administration (FDA) in January 2012. Ivacaftor is a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator. A study by Ramsey et al observed lung function improvement at 2 weeks that was sustained through 48 weeks. The study also observed improvements in risk of pulmonary exacerbations, patient-reported respiratory symptoms, weight gain, and concentration of sweat chloride.[37] The use of ivacaftor for additional CFTR mutations is currently being studied.[41]

While corticosteroids have been shown to slow the progression of lung disease, they also had significant adverse effects, especially on growth.[42]

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Diet and Exercise

In general, a normal diet with additional energy and unrestricted fat intake is recommended. A high-energy and high-fat diet, in addition to supplemental vitamins (especially fat soluble) and minerals, is recommended to compensate for malabsorption and the increased energy demand of chronic inflammation.

In children, because of various physical activities and eating habits, assessment and modification of energy requirements is based on growth and weight gain. Special consideration is given to female patients with a potential for delayed puberty because of malnutrition, patients with diabetes mellitus, and patients with liver disease.

Nutritional supplements in the form of either high-energy oral preparations (eg, Scandishake) or enteral feeds (eg, elemental formulas, high-fat mixtures) via nasogastric tube or gastrostomy may be indicated in some patients. In one study, gastrostomy tube placement has been shown to significantly improve percentile body mass index and percent-predicted FEV1 in male patients and female pediatric patients. Lung function changes after placement did not depend on the level of lung function at placement.[43]

Regular exercise increases physical fitness in patients with cystic fibrosis. Upper body exercises, such as canoe paddling, may increase respiratory muscle endurance.

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Surgical Management of Complications

Surgical therapy may be required for the treatment of the following respiratory complications:

  • Pneumothorax
  • Massive recurrent or persistent hemoptysis
  • Nasal polyps
  • Persistent and chronic sinusitis

GI tract complications requiring surgical therapy are as follows:

  • Meconium ileus
  • Intussusception
  • Gastrostomy tube placement for supplemental feeding
  • Rectal prolapse

Lung transplantation is indicated for the treatment of end-stage lung disease.[44] Studies suggest that, although lung transplantation may improve quality of life, it may not lengthen survival.[45, 46]

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Special Populations

Pregnant patients

CF patients and their partners should attend counseling, including genetic counseling, when planning for pregnancy. Women with CF can have successful pregnancies provided that special care is taken with the following:

  • Nutrition (vitamin and energy supplements)
  • Airway clearance
  • Treatment of respiratory infections

Patients with diabetes

Pancreatic tissue damage leads to diabetes mellitus in 8-12% of CF patients older than 25 years. In the Cystic Fibrosis-Related Diabetes Therapy (CFRDT) Trial, Moran et al found that among patients with CF-–related diabetes without fasting hyperglycemia, insulin therapy improved and sustained body mass index (BMI).[47] Patients treated with repaglinide had an initial significant BMI gain; however, after 6 months, it declined, and no difference was noticed at 1 year.

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Consultations and Long-Term Monitoring

In addition to the specialists available at CF centers (usually pulmonologists and/or gastroenterologists), other specialists may need to be consulted when other systems are involved or complications involve other organs, including the following:

  • Surgeon
  • Otolaryngologist
  • Endocrinologist
  • Cardiologist
  • Transplant surgeon

Patients are monitored in the CF clinic every 2-3 months to achieve the following goals:

  • Maintenance of growth and development
  • Maintenance of as nearly normal lung function as possible using clinical assessment, pulmonary function testing, and oxyhemoglobin saturation
  • Intervention and retardation of the progression of lung disease via appropriate use of antibiotics, bronchodilators, and airway clearance techniques
  • Clinical assessment to monitor gastrointestinal tract involvement and presence of malabsorption and to provide enzyme and nutrition supplementation
  • Monitoring for complications and their treatment
  • Addressing psychosocial issues

Respiratory cultures should be obtained during each clinic visit. Common practice is to obtain expectorated sputum for this purpose. In young patients who cannot expectorate, deep throat swab cultures are obtained.

A recent study suggests that induced sputum using increasing concentrations of saline has a higher microbiological yield compared with conventional samples.[48] Although sputum induction is safe and may provide additional information to guide antimicrobial therapy, related extra time and expenses may warrant its use only in special situations.

Various techniques used to clear airways may include the following:

  • Chest physical therapy by hands
  • Forced expiratory technique and autogenic drainage
  • Positive expiratory pressure (PEP) using a PEP mask
  • High-frequency oscillation using a Flutter device
  • High-frequency chest compression using a ThAIRapy Vest

These techniques can be combined with bronchodilator therapy via a nebulizer.

Routine vaccinations are indicated in patients with cystic fibrosis, including seasonal influenza vaccination. A recent attempt by a Cochrane review to study the palivizumab vaccine for prevention of respiratory syncitial virus infection in patients with cystic fibrosis identified one randomized control trial, which reported no increase in the adverse events in the treatment versus placebo groups.[49]

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Contributor Information and Disclosures
Author

Girish D Sharma, MD  Professor of Pediatrics, Rush Medical College; Senior Attending, Department of Pediatrics, Director, Section of Pediatric Pulmonology and Rush Cystic Fibrosis Center, Rush University Medical Center

Girish D Sharma, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Chest Physicians, American Thoracic Society, and Royal College of Physicians of Ireland

Disclosure: Nothing to disclose.

Specialty Editor Board

Susanna A McColley, MD  Professor of Pediatrics, Northwestern University, The Feinberg School of Medicine; Director of Cystic Fibrosis Center, Head, Division of Pulmonary Medicine, Children's Memorial Medical Center of Chicago

Susanna A McColley, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Chest Physicians, American Sleep Disorders Association, and American Thoracic Society

Disclosure: Genentech Honoraria Speaking and teaching; Genentech Honoraria Consulting; Boston Scientific Consulting fee Consulting; Gilead Honoraria Speaking and teaching; Caremark Consulting fee Consulting; Vertex Pharmaceuticals Honoraria Speaking and teaching

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Charles Callahan, DO  Professor, Deputy Chief of Clinical Services, Walter Reed Army Medical Center

Charles Callahan, DO is a member of the following medical societies: American Academy of Pediatrics, American College of Chest Physicians, American College of Osteopathic Pediatricians, American Thoracic Society, Association of Military Surgeons of the US, and Christian Medical & Dental Society

Disclosure: Nothing to disclose.

Mary E Cataletto, MD  Director of Children's Sleep Services, Winthrop Sleep Disorders Center; Professor of Clinical Pediatrics, State University of New York at Stony Brook

Mary E Cataletto, MD is a member of the following medical societies: American Academy of Pediatrics and American College of Chest Physicians

Disclosure: Shering Plough Pharmaceuticals Honoraria Consulting

Chief Editor

Michael R Bye, MD  Professor of Clinical Pediatrics, Division of Pulmonary Medicine, Columbia University College of Physicians and Surgeons; Attending Physician, Pediatric Pulmonary Medicine, Morgan Stanley Children's Hospital of New York Presbyterian, Columbia University Medical Center

Michael R Bye, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Chest Physicians, and American Thoracic Society

Disclosure: Nothing to disclose.

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Chest radiograph of a patient with advanced cystic fibrosis. Note marked hyperinflation, peribronchial thickening, and bilateral infiltrates with evidence of bronchiectasis especially of the upper lobes.
 
 
 
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