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CYSTIC FIBROSIS

Dana Weisbrot

Chamberlain College of Nursing

NR503: Population Health Epidemiology and Statistical Principles

October 2019

Cystic fibrosis is a chronic illness that affects the respiratory and digestive systems. This is a progressive genetic disease that is characterized by the formation of thick mucus that obstructs the lungs and the pancreas (Cutting, Engelhardt & Zeitlin, 2019). This is a life threatening condition that has been found to significantly shorten the lifespan of the people with the condition. The average life span of a person with cystic fibrosis in the U.S. is 37.5 years (Spoonhower & Davis, 2016). Nonetheless, with appropriate care interventions, the life of a cystic fibrosis can be extended significantly. There has been increasing research to discover new treatments and medications to improve the management of cystic fibrosis for a better quality of life and extended lifespan. The purpose of this paper is to explore some important factors related to cystic fibrosis including the signs and symptoms of the illness, prevalence, epidemiology, screening techniques, and guidelines for surveillance and reporting. The paper also includes an evidence-based intervention that can be used by a nurse practitioner to properly care for a patient with cystic fibrosis.

Background and Significance

Cystic fibrosis is one of the most commonly prevalent inherited diseases with a high mortality rate. This is an autosomal recessive disorder, thus, most carriers of the cystic-fibrosis-causing gene do not have the symptoms for the illness (Cutting, Engelhardt & Zeitlin, 2019). Cystic fibrosis is an illness that affects the exocrine gland function, which affects several organ systems. Nonetheless, it results primarily in an infection of the respiratory system, pancreatic enzyme insufficiency, and other complications in patients who are not adequately treated. In 90% of patients surviving the neonatal period of cystic fibrosis, pulmonary involvement occurs (Cutting, Engelhardt & Zeitlin, 2019). The main cause of death associated with this disease in the end-stage lung disease.

Cystic fibrosis is typically diagnosed in infancy. The average age of diagnosis is between six and eight months. However, the clinical manifestation of the disease can vary from patient to patient. Therefore, diagnosis can be done earlier or later in the patient’s life (Milunsky & Milunsky, 2015). There are several signs and symptoms associated with the disease, which aid in its diagnosis. The illness can manifest in physical, gastrointestinal, respiratory, and genitourinary symptoms. The gastrointestinal symptoms of cystic fibrosis may include abdominal distention, intestinal obstruction, flatulence, jaundice, recurrent abdominal pain, increased frequency of stools, meconium ileus, and gastrointestinal bleeding. The respiratory symptoms may include recurrent pneumonia, recurrent wheezing, coughing, atypical asthma, chest pains, and dyspnea of exertion. Additionally, the patient may experience genitourinary symptoms including amenorrhea, delayed secondary sexual development, or undescended testicles (Cutting, Engelhardt & Zeitlin, 2019). Lastly, there are some physical signs that are mainly associated with the degree of progression of the disease. These include nasal polyps or rhinitis, increased anteroposterior chest diameter, cyanosis, dry skin, and rectal prolapse.

In the U.S. cystic fibrosis occurs at the rate of 1 in 3,400. At least 30,000 people in the United States are living with this chronic condition. However, a large majority of cystic fibrosis patients are Caucasian. This is followed by Hispanics, African Americans, and lastly, Asian Americans with the lowest incidence rates. Thus, there is a significant difference in the current incidence statistics depending on region. Regions with a higher population of white people tend to have a higher incidence rate of the illness. For instance, Southern states tend to have high incidence rates due to the higher white population. The following is a comparison of the cystic fibrosis statistics in New York State compared to the national incidence statistics.

Data	New York	National
People with Cystic Fibrosis	6,106	29,887
Total deaths	26	380
Caucasian (%)	94.0	93.6
African American (%)	3.7	4.6
Other races (%)	2.3	3.6

Source: Cystic Fibrosis Foundation (2017), New York Department of Health (2018).

As the data above shows, the rate of cystic fibrosis diagnoses in New York is consistent with the national trends in terms of the races affected. Both New York and national data show that Caucasians have the highest number of infections in the population.

Surveillance and Reporting

The main cause of mortality in cystic fibrosis is lung failure. Therefore, early lung surveillance is required for all patients diagnosed with the disease. Newborn screening is done for children at risk of cystic fibrosis to begin the management early enough before the development of the signs and symptoms. There are several surveillance options that can be used depending on the patient. For instance, in newborns, CT imaging can be done to check for any abnormalities in the lung’s development. Examination of the lung culture can also be done to examine the presence of cystic fibrosis. If a child is diagnosed with the disease, early treatment and management is required.

Patients with cystic fibrosis are required to attend clinical visits every two to three months for the monitoring of the progression of their condition. The purpose of the monitoring is to ensure that they achieve the following goals; the patient should have a healthy progression of their growth and development, they should maintain normal lung function, oxyhemoglobin saturation, and pulmonary function (Milunsky & Milunsky, 2015). Clinical assessments are also required to monitor their gastrointestinal tract involvement to ensure the occurrence of malabsorption. Nutritional and enzyme supplementation is required to facilitate this. The clinical visits are also necessary for the retardation and intervention of lung disease progression through the use of airway clearance techniques, bronchodilators, and antibiotics (Milunsky & Milunsky, 2015). The clinical surveillance is also done to monitor any potential complications and psychosocial issues associated with the disease. In every clinical surveillance visit, the clinical professional is required to collect respiratory cultures for testing. The common required practice is to collect expectorated sputum for the evaluation of the cultures. However, for young patients who are not able to give expectorated sputum a deep throat swab is collected.

Data on the diagnosis, epidemiology, management, and mortality related to cystic fibrosis is collected by the Cystic Fibrosis Foundation, a national organization responsible for the management of cystic fibrosis in the U.S. Thus healthcare organizations voluntarily report data on the disease to this organization.

Epidemiological Analysis

Cystic fibrosis affects people from all races in the United States. However, there is a significant difference in the incidence of the illness between races. The Caucasian population has the majority of cystic fibrosis cases, followed by African Americans and Asian Americans by a long range. It is estimated that each offspring of two heterozygote white parents has at least 25% chance of having cystic fibrosis (Spoonhower & Davis, 2016). The cystic fibrosis heterozygote frequency in Caucasian parents in 1 in every 20 people. In the United States, it is estimated that 1 in every 3,200 Caucasian people have been diagnosed with cystic fibrosis (Spoonhower & Davis, 2016). In comparison, 1 in every 9,200 Hispanics are diagnosed with the disease. The rate of cystic fibrosis diagnoses is much lower in the African American and Asian populations. 1 in every 17,000 and 1 in every 31,000 people in the African American and Asian American populations respectively, are diagnosed with cystic fibrosis (Spoonhower & Davis, 2016).

The incidence of cystic fibrosis varies from country to country. In England, the incidence of the disease is 1 in 377 births. In Hawaii, 1 in every 90,000 Asian births are diagnosed with cystic fibrosis. The frequency is higher in Asian Americans and African Americans with a reflection of white admixture. These trends suggest a relationship between race and the incidence of cystic fibrosis.

The race differences in the distribution of cystic fibrosis are a result of the varied distribution of the CFTR gene depending on the patients’ backgrounds. The ΔF508 is the most common mutation of this gene that occurs in the white population of the Northern European descent (Spoonhower & Davis, 2016). This mutation is believed to be the cause of the development of cystic fibrosis. The mutation is less common in people of African and Asian descent. However the manifestation of the genetic mutation is similar in all races. Nonetheless, African Americans diagnosed with cystic fibrosis will have a higher risk of effects in pulmonary function and nutrition. The impact of socioeconomic status on the manifestation of cystic fibrosis is not clear.

Significant sex demographic differences have also been identified in cystic fibrosis. Females diagnosed with the disease have a greater progression rate with increase in age. Females also have a younger mean age of death when diagnosed with cystic fibrosis (Spoonhower & Davis, 2016). It is believed that this difference is a result of greater hormonal secretion after puberty in women than in men. The hormonal secretion is believed to affect the functioning of the immune system in women, thus promoting the faster progression of the disease.

Cystic fibrosis has significant economic and social costs. The mean annual cystic fibrosis treatment costs are estimated to be at $15,571. Nonetheless, the costs of treatment vary depending on the severity of the illness. The mild, moderate, and severe annual costs of treatment are estimated at US $10,151, US $25,647, and US $33,691, respectively (Castellani et al., 2016). The disease also has a significant social impact. Aside from being a leading cause of early-age mortality it is a leading cause of psychological issues such as depression and anxiety in people who have been diagnosed with the disease (Quittner et al., 2016).

Screening and Guidelines

Screening for cystic fibrosis can be done in prenatal procedures or on a newborn baby. In newborn screening, a blood test is done to examine the levels of immunoreactive trypsinogen (IRT). A blood sample is drawn from the infant’s heel and tested for the levels of IRT, Insufficient secretion of IRT from the pancreas suggests the presence of cystic fibrosis (Farrell et al., 2017). On the other hand, prenatal screening is done to detect whether the fetus has cystic fibrosis. The screening can be done through a chronic callus sampling (CVS) or an amniocentesis, which are prenatal genetic tests used to test for the presence of hereditary diseases in the fetus.

The IRT test is one of the most common tests used for cystic fibrosis examination. This is a very simple test that requires the drawing is a very small sample of blood from the infant’s heel. The sensitivity, specificity, and positive predictive value of this test has been found to be around 96%, and approaching 100% (Farrell et al., 2017). Therefore, this is an accurate measure of the illness in infants. The average cost of this test is relatively low, ranging between $3.63 and $5.85 per newborn (Castellani et al., 2016).

There are some guidelines that need to be followed in the screening of cystic fibrosis for more effective management of the illness. The American College of Obstetricians and Gynecologists' (ACOG's) Committee on Genetics have a set of guidelines for safe prenatal and newborn screening for cystic fibrosis. First, screening for this disease is required as a part of obstetric care for all children regardless of their race or ethnicity (Castellani et al., 2016). Prenatal screening is done on mothers who are carriers of the cystic fibrosis genetic mutation. Most importantly, maternal carrier prenatal screening is not to be used as a replacement for the newborn screening. Even if a child was tested negative in the prenatal screening, they are still required to be screened as an infant (Farrell et al., 2017).

Plan: Integrating Evidence

Cystic fibrosis, being a long-term health condition, will required a lifelong management plan to manage symptoms and complications. The following is a primary, secondary, and tertiary evidence-based interventions that need to be implemented for effective management of the illness.

Primary Treatments

Patients with cystic fibrosis will need to be given pancreatic enzyme supplements. The purpose of these supplements is to improve the ability of their digestive system to absorb nutrients. Antibiotics are required for the treatment of lung infections. Anti-inflammatory agents and bronchodilators are prescribed to improve the lung functioning. Mucolytic agents are given to increase the rates of airway clearance, thus reducing the rates of exacerbations (Fajac & De Boeck, 2017).

Secondary Management of Complications

Pulmonary rehabilitation is recommended for patients with cystic fibrosis as a way of improving lung function and the overall well-being of the patient. Pulmonary rehabilitation includes a set of activities that improve the efficiency of lung function (Fajac & De Boeck, 2017). Some of the activities that are involved in pulmonary rehabilitation include increased exercise, improvement of breathing techniques, nutritional counseling, and patient education and counseling. Research shows that pulmonary rehabilitation is effective in improving management of cystic fibrosis in patients.

Psychosocial Interventions

The provision of holistic care is important for the management of a chronic illness such as cystic fibrosis. Holistic care is a type of intervention that caters for more than the physical effects of a disease (Quittner et al., 2016). This form of care caters for the psychological, social, and spiritual effects of an illness. Therefore, it is recommended that the nurse evaluates these aspects of the patient’s life and develops interventions to improve them.

Conclusion

Cystic fibrosis is a serious chronic illness caused by genetic mutations. The illness affects the functioning of the respiratory and the digestive system. Although it is mostly common in the white population, all people are at risk of cystic fibrosis. Therefore, infant screening is required for all children in the United States. For people diagnosed with cystic fibrosis, immediate medication and treatment intervention is required regardless of whether the symptoms have manifested or not.

References

Castellani, C., Massie, J., Sontag, M., & Southern, K. W. (2016). Newborn screening for cystic fibrosis. The Lancet Respiratory Medicine, 4(8), 653-661.

Cutting, G. R., Engelhardt, J., & Zeitlin, P. L. (2019). Genetics and pathophysiology of cystic fibrosis. In Kendig's Disorders of the Respiratory Tract in Children (pp. 757-768). Content Repository Only.

Cystic Fibrosis Foundation (2017). Annual data report. https://www.cff.org/Research/Researcher-Resources/Patient-Registry/2017-Patient-Registry-Annual-Data-Report.pdf

Fajac, I., & De Boeck, K. (2017). New horizons for cystic fibrosis treatment. Pharmacology & therapeutics, 170, 205-211.

Farrell, P. M., White, T. B., Ren, C. L., Hempstead, S. E., Accurso, F., Derichs, N., ... & Sermet-Gaudelus, I. (2017). Diagnosis of cystic fibrosis: consensus guidelines from the Cystic Fibrosis Foundation. The Journal of pediatrics, 181, S4-S15.

Milunsky, A., & Milunsky, J. M. (2015). Genetic disorders and the fetus: diagnosis, prevention, and treatment. John Wiley & Sons.

Spoonhower, K. A., & Davis, P. B. (2016). Epidemiology of Cystic Fibrosis. Clinics in chest medicine, 37(1), 1-8.

Quittner, A. L., Abbott, J., Georgiopoulos, A. M., Goldbeck, L., Smith, B., Hempstead, S. E., ... & Elborn, S. (2016). International committee on mental health in cystic fibrosis: Cystic fibrosis foundation and european cystic fibrosis society consensus statements for screening and treating depression and anxiety. Thorax, 71(1), 26-34.

CYSTIC FIBROSIS

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