Epidemiology: Cystic Fibrosis, Research Paper Example

Of the many common health issues in the world, lung diseases are a huge contributor to the prevalence of illnesses and deaths, and one of the most troublesome diseases of the lungs is cystic fibrosis. According to the U.S. Department of Health and Human Services, cystic fibrosis is a life-threatening disorder most commonly diagnosed in children and young adults (NIH, 2014). This paper examines the nature of this “chronic, progressive, and disabling” (Ernst, Johnson, & Stark, 2010) disease and how it affects those it inflicts.

Causes of Cystic Fibrosis

Cystic fibrosis is genetically passed through families by a defective gene that causes hallmark symptoms characterized by the build-up of thick, sticky mucus in the lungs, digestive tract, pancreas as well as other areas of the body such as the sweat glands and reproductive system. This build-up is a culprit of serious problems with the digestive tract and lung infections that can be life-threatening for those with the disease (NIH, 2014). Mailhot (2012) states that cystic fibrosis “is an inherited disease of multiple organ systems caused by a mutation in gene encoding” (p. 280), and the disease seems to have a specific prevalence trend associated with it.

Prevalence of Cystic Fibrosis

The prevalence of cystic fibrosis includes millions of gene carriers who do not have any symptoms, which is so because anyone who is actually afflicted with the disease must have inherited a defective gene from each parent—two defective genes are required to result in cystic fibrosis. Additionally, the disease is most common in people of northern or central European descent (NIH, 2014). This means that the disease is seen mostly in Caucasians. Additionally, Mailhot (2012) reports that evidence shows that the disease is prevalent in about 1 in 3,000 Caucasians compared to 1 in 15,000–20,000 African Americans and only 1 in 350,000 Asians.

The prevalence of cystic fibrosis includes most diagnoses presenting before age 2 in most patients. Additionally, the disease places females at higher risks for mortality from the disease than males, with 95% of mortality cases being patient deaths due to complications from lung infections. The median age of survival is 37.4 years, as predicted from research in 2007, which is an improvement from the past because 50 years ago, most children with the disease died before they were 6 years old (Ernst, Johnson, & Stark, 2010). As it relates to future implications for this disease, researchers have proposed the importance of focusing on identifying gene paths that cause airway inflammation. In addition, emerging evidence shows cystic fibrosis actually begins silently in infancy, and symptoms are non-detectable until the disease process has begun. Therefore, researchers point out the importance of understanding why this occurs during infancy in an effort to develop new strategies for therapy and prevention (Ramsey, et al., 2012).

Symptoms and Disease Detection

According to NIH (2014), hallmark symptoms of cystic fibrosis in infants include failure to thrive, delayed growth, failure to gain weight, salty-tasting skin, and no bowel movements in the first day of two after birth. As a person with cystic fibrosis gets older, symptoms include severe gastrointestinal dysfunction and related issues and complications, lung and sinus conditions (i.e., infection, heavy mucus in lungs or sinuses, coughing, nasal congestion, nasal polyps, and pneumonia), chronic fatigue, and shortness of breath. Later in life, the disease can cause infertility, pancreatitis, respiratory problems, and clubbed fingers. These symptoms, no doubt, are very difficult to manage and cause significant suffering from those afflicted.

Cystic fibrosis can be detected and diagnosed through a blood test that detects changes in a specific gene known to be related to the cause of the disease, as well as other screenings for newborns. Another standard diagnostic test for the disease measures a patient’s salt levels in their sweat, which can indicate the presence of cystic fibrosis. Other tests that can help in a diagnosis include chest x-rays, CT scans, fecal fat tests, lung function tests, pancreatic function tests, and gastrointestinal function tests (NIH, 2014). The validity of the testing and detection methods of cystic fibrosis are positive, according to research, and can even be improved. Study results show that less than half of gene mutations detected for screening have been challenged, as confirmatory testing has been performed whenever gene mutations are identified. This has worked well to lessen the incidence of any false-positive results in the testing (Palomaki, Bradley, Richards, & Haddow, 2003).

Disease Costs

Costs associated with cystic fibrosis is relatively high. Lifetime expenses for a patient with cystic fibrosis is estimated to be over $400,000 per year in the US or €396 000 in the UK. Total annual medical costs for this disease is estimated to be over $314 million in the US and over €105 million in the UK. However, these estimates can vary widely, depending on individual cases, utilization, and healthcare systems. Additionally, insurance and reimbursement costs vary as do drug and treatment therapy costs (Schreyögg, Hollmeyer, Bluemel, Staab, & Busse, 2006).

Disease Prevention

Unfortunately, with current methods, cystic fibrosis is not preventable. However, screening is important in families with a history of the disease, which could detect the mutated gene in carriers (NIH, 2014). Additionally, early intervention is a key to preventing some of the complications associated with the disease. This includes early diagnosis, regular monitoring, implementing measures to prevent related infections and cross-infections, early medicinal protocol therapies, and chest therapies (Doring & Hoiby, 2004).

References

Doring, G., & Hoiby, N. (2004). Early intervention and prevention of lung disease in cystic fibrosis. Early intervention and prevention of lung disease in cystic fibrosis:, 3(1), 67-91.

Ernst, M. M., Johnson, M. C., & Stark, L. J. (2010, April). Developmental and psychosocial issues in CF. Child Adolesc Psychiatr Clin N Am, 19(2), 263-viii.

Mailhot, G. (2012, May). Vitamin D bioavailability in cystic fibrosis: a cause for concern? Nutrition Reviews, 70(5), 280-293.

NIH. (2014, May 14). Cystic fibrosis. Retrieved from National Library of Medicine, National Institutes of Health: http://www.nlm.nih.gov/medlineplus/ency/article/000107.htm

Palomaki, G. E., Bradley, L. A., Richards, C. S., & Haddow, J. E. (2003, Jan-Feb). Analytic validity of cystic fibrosis testing: a preliminary estimate. Genet Med, 5(1), 15-20.

Ramsey, B. W., Banks-Schlegel, S., Accurso, F. J., Boucher, R. C., Cutting, G. R., Engelhardt, J. F., . . . Welsh, M. (2012, April 15). Future Directions in Early Cystic Fibrosis Lung Disease Research. Am J Respir Crit Care Med, 185(8), 887-892.

Schreyögg, J., Hollmeyer, H., Bluemel, M., Staab, D., & Busse, R. (2006). Hospitalisation Costs of Cystic Fibrosis. PharmacoEconomics, 24(10), 999.