Cystic Fibrosis

Nurses act as a healthcare provider, advocate and educator for CF patients.

To view the Course Outline and take the exam online, click here.

For a printer-friendly version of the exam you can print out, complete and mail to ADVANCE, click here
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Learning Scope #412
1 contact hour
Expires Dec. 17, 2014

You can earn 1 contact hour of continuing education credit in three ways: 1) Grade and certificate are available immediately after taking the online test. 2) Send the answer sheet (or a photocopy) to ADVANCE for Nurses, Learning Scope, 2900 Horizon Dr., King of Prussia, PA 19406. 3) Fax the answer sheet to 610-278-1426. If faxing or mailing, allow 30 days to receive certificate or notice of failure. A certificate of credit will be awarded to participants who achieve a passing grade of 70 percent or better.

Merion Matters is an approved provider of continuing nursing education by the Pennsylvania State Nurses Association (No. 221-3-O-09), an accredited approver by the American Nurses Credentialing Center's Commission on Accreditation. 

Merion Matters is also approved as a provider by the California Board of Registered Nursing (No. 13230) and by the Florida Board of Nursing (No. 3298).


The goal of this continuing education article is to review the latest information on cystic fibrosis. After reading this article, you will be able to:

1. Describe the pathophysiology, clinical manifestations and management of cystic fibrosis.
2. Identify the diagnostic testing for cystic fibrosis.
3. Detail the role of the nurse in promoting health and quality of life for the person with cystic fibrosis.

  • The author has completed a disclosure form and reports no relationships relevant to the content of this article. 

Cystic fibrosis (CF) is a life-threatening genetic disease characterized by complex multisystem involvement. It affects all racial and ethnic groups but is most common among Caucasians. Once considered a terminal childhood disease, CF is now a chronic condition with a median life expectancy of more than 36.8 years of age.1

Significant advances in genetic and biomedical research have been made over the past 20 years that have influenced health professionals' knowledge of the disease, its cause, approaches to diagnosis and clinical management. This article will highlight the current understanding about CF management and implications for nurses.

CF Basics

CF is an autosomal recessive genetic disease caused by a defective cystic fibrosis transmembrane conductance protein (CFTR) that results from mutations in the CFTR gene. This protein is responsible for the development of an anion channel in the epithelial cell membrane that regulates chloride transport and as a result water and sodium movement across the cell membrane.2

The protein channel is found in the membrane of cells lining the passages of exocrine organs, including the sweat glands, respiratory tract (particularly the sinuses and lungs), gastrointestinal tract (particularly the pancreas, intestines and liver) as well as in both the male and female reproductive tract. The resulting pathogenesis is obstruction in these organs due to dehydration of fluid and an accumulation of thick mucus.

Scientific knowledge has rapidly expanded since the discovery of the CF gene in 1989 with more than 1,800 unique mutations reported today. Not all these mutations cause CF as their mechanisms for disrupting the protein function differ. Those that are disease-causing vary in severity of disease expression.3

Today, researchers study drug compounds aimed at modulating the faulty CFTR protein. In 2012, the FDA approved the first oral drug, Kalydeco, to treat the basic protein defect in people age 6 and older with the G551D mutation. Roughly 4 percent of the CF population in the U.S. has this mutation. Clinical trials are now under way to test CFTR modulators in CF patients with other mutations, including F508del (Delta F508), the most common CF mutation.

Diagnosis

Diagnosis of CF requires a positive sweat chloride test in the presence of either 1) clinical symptoms consistent with CF; 2) a family history of CF; or 3) for the individual to have two CF-causing mutations. Clinical symptoms can include chronic cough, sputum production, persistent radiograph abnormalities, airway obstruction with wheezing, nasal polyps, chronic sinus disease, meconium ileus, rectal prolapse, failure to thrive, hypoproteinemia, hyponatremia and malnutrition.4

Genetic testing is available for CF. The American College of Medical Genetics (ACMG) has set standards for testing of 23 of the more common CF mutations.5 However, because many mutations of the CF gene may not be disease-causing, genetic testing can lead to more confusion surrounding diagnosis.

While much progress has been made, the CF diagnosis consensus conference states that the quantitative pilocarpine iontophoresis sweat chloride test remains the primary test for diagnosis.4 Sweat testing for CF should be done at a CF Foundation-accredited care center for quality assurance and to meet the standards for diagnosis.

While CF can be diagnosed at any age, all states screen newborns for CF by measuring the immunoreactive trypsinogen (IRT), as recommended by the CDC and the CF Foundation. IRT-positive screens are followed by either a second IRT or DNA analysis of at least the ACMG's recommended mutations. If the first and second screening tests are positive, the newborn is referred to an accredited CF care center for sweat testing.6

With the advent of newborn screening, many babies are diagnosed before signs and symptoms appear. Nurses' support of parents is shifting to helping them cope with their "healthy" baby having a life-threatening disease.

CF Management

Progressive lung disease is the major cause of morbidity and mortality in CF. The pathophysiologic basis is impaired mucociliary clearance due to dehydrated airway surface liquid and thick tenacious mucus. Because of this mucus, people with CF usually become chronically colonized with gram-negative organisms that may be quantitatively decreased with antimicrobial therapy but cannot be eliminated. This colonization - especially from Pseudomonas aeruginosa (P. aeruginosa) and other gram-negative bacilli - and the intense host inflammatory response to infections lead to a progressive cycle of mucus obstruction, infection and inflammation. The result is chronic bronchiectasis and progressive damage to the airways.

Chronic therapies for CF respiratory management are aimed at slowing this progression. Management includes airway clearance therapies, e.g., postural drainage and percussion (PD&P) and inhaled medications to thin the mucus to facilitate clearing the lungs.7 Depending on sputum cultures, the person with CF may be chronically treated with inhaled antibiotics. Table 1 summarizes the recommended chronic pulmonary therapies, based on the Chronic Medications for Maintenance of Lung Health guidelines and the Cystic Fibrosis Pulmonary Guidelines: Airway Clearance Therapies.7,8

Despite these chronic therapies, people with CF experience periodic acute episodes of worsening respiratory symptoms, called a pulmonary exacerbation. Pulmonary exacerbations may be caused by pathogens and lack of adherence to chronic therapies. Symptoms may include increased cough, sputum production, hemoptysis, shortness of breath, fatigue, loss of appetite and weight, and decline in lung function.
When oral and aerosolized antibiotics do not lessen the symptoms of the pulmonary exacerbation, IV antibiotics may be necessary.9 Standard IV antibiotics include the use of two anti-pseudomonal, e.g., an aminoglycoside and beta lactam, for 14-21 days or until symptoms improve.9 It is recommended all chronic therapies continue during exacerbation treatment. Besides antibiotics, treatment includes more intensive nutritional support and more frequent airway clearance therapies. Exacerbations may be treated in the hospital or home setting. In many cases, therapy is initiated in the hospital and completed in the home.

Traditional concerns about the development of resistant pathogens with overuse of antibiotics must be balanced against the goal of lessening the progressive damage from bronchiectasis, repeated infections, inflammation and mucus obstruction. Resistant pathogens growing in the CF sputum do not show transmissibility to those without CF. However, there is clear evidence of transmission between people with CF.10

The nurse is in a position to help people with CF learn how to fit the complex medical care into their daily routine. It may take 1.5-3 hours a day for a person with CF to do all the recommended chronic therapies just to maintain lung health. As disease severity worsens, daily management becomes full time, thus limiting time for work, social interactions and overall quality of life. Education about the signs and symptoms of potential problems, self-management and when to call the CF center or the primary care provider (PCP) is a primary focus of a nurse.

Infection Control

Because of the risk of pulmonary exacerbations, infection control practices are one way CF patients may be able to maintain their health. Patients should receive immunizations in accordance with CDC recommendations, including an annual inactivated influenza vaccine versus the live intranasal mist in the fall.10,11

The thick, tenacious mucus in CF lungs and sinuses is a prime environment for pathogens to lodge resulting in chronic infections. As of 2011, more than 50 percent of people with CF have a chronic pulmonary infection with P. aeruginosa.1 However, more pathogens are being cultured from CF sputum and the sequela on the health of CF patients is unclear.

In 2001, more than 7 percent had MRSA, and in 2011, more than 25 percent of CF patients were sputum culture positive for MRSA. People chronically infected with P. aeruginosa have a shortened survival, this appears to be true for MRSA and other emerging pathogens.12 An added twist is that CF-specific pathogens, e.g., P. aeruginosa, can spread to others with CF. Some of these pathogens are virulent and can rapidly lead to severe lung disease, ending in death.13

Good infection control with hand and respiratory hygiene along with avoiding contact between people with CF is critical to minimize the acquisition and spread of germs in the CF population.

Infection control practices for CF include the recommendation that people with CF maintain at least 3 feet from others with CF, good hand hygiene with either soap and water or 60 percent alcohol-based hand gel, and covering the nose and mouth when coughing/sneezing and throwing the tissue away, followed by hand hygiene.10

Educating about good infection control practices is a key action nurses in the PCP office, school or occupational setting can take to minimize the risk for acquisition and spread of pathogens. This is especially critical when more than one person with CF is in the same location.

Disinfection of nebulizers and any device that comes in contact with mucus membranes is another means to minimize the acquisition of germs. The equipment should not be shared. It should be cleaned, disinfected and air-dried after every use. Disinfecting can be done by electric steam sterilizers, e.g., used for baby bottles; boiling (if the equipment will tolerate the temperatures); soaking in recommended disinfectants for stated time followed by a sterile water rinse; or using a dishwasher where the temperature reaches 158° F.10

GI System & Nutrition

Signs and symptoms of food malabsorption are a hallmark of CF. In CF, the digestive enzymes from the pancreas that are critical to the breakdown and absorptions of fat, calories and nutrients do not reach the small intestine, resulting in malabsorption, steatorrhea and malnutrition with low-fat soluble vitamin blood levels.

Pancreatic enzymes replacement therapy (PERT) help the body absorb nutrients and calories, and are taken by about 87 percent of CF patients in the U.S.1 Enzymes are to be taken with every meal and snack involving fats, protein and complex carbohydrates. A CF diet should be a well-balanced, high-protein diet with unrestricted fat that provides 110 percent to 200 percent of standard energy need for the healthy general population.14 Calories are concentrated by adding fats, such as butter and cream to food, or, for infants, high-calorie formula or added oil.

Infants with CF should grow at a weight-for-length status of ≥50th percentile.14 Children with CF should grow at or above the 50th percentile body mass index (BMI) and for those 20 years and older, females should have a BMI of 22 or greater and males 23 or greater.14 Normal growth for a child and maintenance of a healthy weight for an adult with CF is associated with better lung function and thus survival (see Figure 1 and Figure 2).1,14 A dietitian with expertise in CF dietary needs is critical to health maintenance. Table 1 summarizes the management of CF related to nutrition.

Exercise helps people with CF not only maintain their overall health but also aids with improved nutrition, weight maintenance, GI motility and strengthening of respiratory muscles. However, due to the risk of electrolyte imbalance and dehydration, they should increase fluids (e.g., sport drinks) and eat salty snacks during exercise. The basic defect in chloride transport that affects the sweat glands results in increased chloride and thus sodium in the sweat.

This increased loss of salt can result in dehydration, hyponatremia and electrolyte imbalance. Salt supplements may be given to maintain blood electrolytes and reduce the risk of dehydration in CF patients of all ages, including infants , especially with exercise or in warm weather.15

More than 32 percent of adults also have CF-related diabetes (CFRD).1 Recognized by the American Diabetes Association (ADA) as different from type 1 and type 2 diabetes, management of CFRD differs in one key area, that of unrestricted calories and adjustment of insulin doses to meet ingested carbohydrates. The ADA and CF Foundation published Clinical Care Guidelines for Cystic Fibrosis-Related Diabetes to help clinicians diagnose, manage and monitor for complications related to CFRD.16

In 2011, about 10 percent of newborns with CF had meconium ileus.1 This is due to a mucus plug that prevents the passage of meconium within the first 24 hours of birth and is considered a medical emergency. This obstruction may be relieved by enema; however, surgical intervention is usually required.

People with CF also may experience liver disease, constipation or distal intestinal obstructive syndrome (DIOS). CF liver disease usually is present by age 15 and sometimes results in the need for liver transplantation.17 DIOS is the partial blockage of the intestines and can result in full intestinal blockage requiring surgery if not identified and treated early. Table 1 summarizes the management of CF related to the GI system.

Nurses in the outpatient, inpatient, home care, school, occupational or community settings need to keep the nutritional needs of people with CF in mind. The nurse can help others understand the increased calorie and salt requirements of those with CF. Considering the push to fight obesity and lower sodium intake in the U.S., many schools and work cafeterias may not have high-calorie foods or salt available for those with CF.

Monitoring of growth, weight maintenance and blood electrolytes is critical when the patient with CF is ill or has severe lung disease when the body's calorie demands increase while appetite decreases. Additionally, the nurse needs to be alert for signs of electrolyte imbalance and dehydration for anyone with CF.

Age-Specific Considerations

Infants: In 2009, the Journal of Pediatrics published guidelines for the management of infants with CF.15 They emphasized the importance of coordination of care between the PCP and the CF care center.

In addition to the standard visits of an infant to the PCP, an infant with CF should be seen at the CF center monthly for the first 6 months of life and then every 1-2 months in the second 6 months and then every 3 months to monitor growth, development and assess for complications of CF.

Children and Adolescents: CF does not affect the attainment of developmental milestones. As with any child with a life-threatening disease, there are issues related to longevity and future planning that will need to be addressed at appropriate developmental ages. It is important to prepare the emerging adult to be able to successfully manage CF and be full partners with their CF healthcare professionals.

Adolescence and emerging adulthood is a time when the risk for worsening health is increased due to disease progression and lack of adherence to agreed-upon therapies. The nurse can assist this population in learning how to manage CF, identify the symptoms of illness and when to contact their CF healthcare professional.

Adults: With advances in treatment for CF, more people with the disease are living well into adulthood, with the oldest person at 81 years in 2011.1 Nearly half of the CF population in the U.S. is over age 18. These adults are leading active lives, pursuing an education and career, getting married, and having children while managing complex daily medical care.1

Most adults with CF have been diagnosed in childhood, but there is an increasing frequency of diagnosis in adulthood due to recognition by healthcare professions of the spectrum of CF manifestations. Testing for CF should be considered for adults presenting with chronic unexplained bronchitis, sinusitis, pancreatitis or male infertility.

Adults with CF have extensive healthcare needs, especially as complications develop and lung function declines overtime. Additionally, challenges with work, finances and relationships are encountered. Over the past decade, adult CF care programs have been created as part of CF Foundation-accredited care centers to help adults and their families optimally manage the disease and address these challenges.17

A critical issue facing adults with CF is obtaining and maintaining adequate health insurance. Choices of employment should take into account health insurance availability and affordability. Federal- and state-funded programs such as Social Security Disability Insurance (SSDI), Supplemental Security Income (SSI), Medicaid and Medicare programs are options for adults with CF as they become unable to work.19

A network of resources to assist people with CF and their families in maintaining their health coverage, knowing their legal rights and obtaining essential medications is available through the CF care centers and the CF Foundation.

Another critical issue for adults with CF is management of their reproductive health. Most males with CF are azoospermic, as congenital absence of the vas deferens affects 98 percent of CF males.17 A semen analysis should be performed for confirmation.17 Males tested and found to be infertile may choose adoption or undergo an infertility procedure for sperm aspiration. The practice of safe sex should be discussed with them as part of their health visits as they are at risk for sexually transmitted diseases (STDs) and until fertility is confirmed, may unexpectedly father a child.

CF females have a normal reproductive tract. Irregular and anovulatory menstrual cycles are associated with poor nutritional status or severe lung disease. Birth control and protection from STDs should be discussed at health visits. Females can become pregnant despite menstrual and cervical mucus irregularities. In 2011, 211 women with CF were pregnant.1

Pregnancy in CF females should be considered high risk no matter their nutritional or lung status. Optimal health prior to pregnancy along with genetic counseling and external support will improve maternal and fetal outcomes. CF females with severe lung disease who become pregnant are at risk for miscarriage, preterm, stillbirth or a small for gestational age baby. Post-delivery is a time of significant risk to the mother's health as there is a tendency to focus less on her own CF care and more on the baby. A strong support system to help care for the mother and baby can offset this risk.

Despite advances in the care of people with CF and longer survival, CF remains life-threatening. Most deaths occur in adulthood due to respiratory failure. In 2011, the median age of death was 26 years.1 Important in the care of the adult with CF are discussions related to lung transplantation and end-of-life issues. Deciding if lung transplantation is a consideration should occur when the person's health is stable, as this decision will impact future treatment strategies.

As of 2011, nearly 3,000 CF patients received lung transplants over the past 21 years.1 People with CF generally do well after lung transplantation, with 80 percent survival 1-year post-transplant and more than 50 percent survival after 5 years.19 While the new lungs do not have CF, the person still has the disease in their sinuses, pancreas, intestines, sweat glands and reproductive tract.

When lung transplantation is not an option, the goal of care is to relieve suffering and improve one's quality of life as much as possible. The approach to palliative care for a person with CF differs from other diseases as medications and therapies are continued. This often includes continuing IV and inhaled antibiotics, plus airway clearance therapy.17

Adults with CF make daily decisions about their care, balancing their quality of life with their healthcare goals. Combining knowledge about disease management with the skills to promote self-management, the nurse can guide adults in making decisions that meet their life goals.

CF Care Centers & CF Foundation

CF care is complex and thus managed by a multidisciplinary team at CF care centers. The team is composed of the person with CF, their family, physicians, nurses, dietitians, respiratory and physical therapists, pharmacists and social workers. CF Foundation-accredited care centers meet peer-reviewed standards of care. The care center is considered the medical home for disease management; however, the PCP needs to be a full partner in the health maintenance of non-CF-related issues.

For optimal health and early detection of worsening disease, CF care guidelines recommend patients have four clinic visits a year at a CF care center. Frequent evaluation of lung function, sputum cultures, nutritional health and potential complications helps keep the CF patient as active and healthy as possible.1 CF care centers are located nationwide and a source of information for all healthcare professionals. CF resources available for healthcare professionals are listed on Table 2.

The CF Foundation was founded in 1955 by parents of children with CF. Its mission is to assure the development of the means to cure and control CF and to improve the quality of life for those with the disease. The foundation supports the work of researchers to discover and develop new therapies to improve the length and quality of life for those with the disease.

The hope for CF is now brighter than ever with the emerging picture of healthier CF patients. Throughout the life of a person with CF, nurses act as a healthcare provider, advocate and educator to help them achieve their desired overall health and quality of life.

References
1. Cystic Fibrosis Foundation. (2012). 2011 patient registry annual data report. Bethesda, MD.
2. Hazle, L. (2009). Cystic fibrosis. In Primary care of the child with a chronic condition (5th ed.). St. Louis: Mosby Elsevier.
3. Coakley, R.D., & Boucher, R.C. (2007). Pathophysiology: Epithelial cell biology and ion channel function in the lung, sweat gland and pancreas. In Cystic fibrosis (3rd ed.). London: Edward Arnold.
4. Farrell, P.M., Rosenstein, B.J., White, T.B., et al. (2008). Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. Journal of Pediatrics, 153(2), S4-S14.
5. American College of Medical Genetics. Technical standards and guidelines for CFTR mutation testing. Retrieved Nov. 28, 2012 from the World Wide Web: http://www.acmg.net/Pages/ACMG_Activities/stds-2002/cf.htm
6. Comeau, A.M., Accurso, F.J., White, T.B., et al. (2007). Guidelines for implementation of cystic fibrosis newborn screening programs: Cystic Fibrosis Foundation workshop report. Pediatrics, 119(2), e495-e518.
7. Flume, P.A., Robinson, K.A., O'Sullivan, B.P., et al. (2009). Cystic fibrosis pulmonary guidelines: airway clearance therapies. Respiratory Care, 54(4), 522-537.
8. Flume, P.A., O'Sullivan, B.P., Robinson, K.A., et al. (2007). Cystic fibrosis pulmonary guidelines chronic medications for maintenance of lung health. American Journal of Respiratory and Critical Care Medicine, 176(10), 957-969.
9. Flume, P.A., Mogayzel, P.J., Robinson, K.A., et al. (2009). Cystic fibrosis pulmonary guidelines treatment of pulmonary exacerbations. American Journal of Respiratory and Critical Care Medicine, 180(9), 802-808.
10. Saiman, L., Siegel, J., & the Cystic Fibrosis Foundation Consensus Conference on Infection Control Participants. (2003). Infection control recommendations for patients with cystic fibrosis: Microbiology, important pathogens, and infection control practices to prevent patient-to-patient transmission. American Journal of Infection Control, 31(3 Suppl), S1-S62.
11. Centers for Disease Control and Prevention. Immunization schedules. Retrieved Nov. 28, 2012 from the World Wide Web: http://www.cdc.gov/vaccines/schedules
12. Dasenbrook, E.C., Checkley, W., Merlo, C.A., et al. (2010). Association between respiratory tract methicillin-resistant staphylococcus aureus and survival in cystic fibrosis. JAMA, 303(23), 2386-2392.
13. Saiman, L., & Siegel, J. (2004). Infection control in cystic fibrosis. Clincal Microbiology. Reviews, 17(1), 57-71.
14. Stallings, V.A., Stark, L.J., Robinson, K.A., et al. (2008). Evidence-based practice recommendations for nutrition-related management of children and adults with cystic fibrosis pancreatic insufficiency: results of a systematic review. Jounral of the American Dietetic Association, 108(5), 832-839.
15. Cystic Fibrosis Foundation, Borowitz, D., Robinson, K.A., Rosenfeld, M., et al. (2009). Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. Journal of Pediatrics, 155(6 Suppl), S73-S93.
16. Moran, A., Robinson, K.A., Brunzell, C., et al. (2010). Clinical care guidelines for cystic fibrosis-related diabetes: a position statement of the American Diabetes Association and a clinical practice guideline of the Cystic Fibrosis Foundation, endorsed by the Pediatric Endocrine Society. Diabetes Care, 33(12), 2697-2708.
17. Yankaskas, J.R., Marshall, B.C., Sufian, B., et al. (2004). Cystic fibrosis adult care: consensus conference report. Chest, 125(1 Suppl), 1S-39S.
18. Sokol, R.J., & Durie, P.R. (1999). Recommendations for management of liver and biliary tract disease in cystic fibrosis. Cystistic Fibrosis Foundation Hepatobiliary Disease Consensus Group. Journal of Pediatric Gastroenterology and Nutrition, 28(Suppl 1), S1-S13
19. Cystic Fibrosis Foundation. Retrieved Nov. 28, 2012 from the World Wide Web: http://www.cff.org

Leslie Hazle is director of patient resources and Cynthia George is director of clinical research resources for the Cystic Fibrosis Foundation, Bethesda, MD.




 
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