Patient and Family Background
The patient, E.J., is a twenty-three-year-old female presenting to the healthcare facility. The patient is a psychology student and, in addition to going to college, she works full-time, which has recently been quite stressful. E.J. received the diagnosis of cystic fibrosis (CF) when she was five, and since the initial diagnosis, she has been experiencing ongoing respiratory infections, persistent cough, and issues with breathing.
E.J. has had a long history of hospitalizations for pulmonary issues, has chronic sinusitis and polyps in the nose, and experienced pancreatic insufficiency that required her to undergo enzyme replacement therapy. The patient’s family history is indicative of the fact that E.J. inherited her disorder, as her mother died three years ago due to complications related to the disorder. It was found that E.J.’s mother was a carrier of the gene. In contrast, her brother had a negative result in the CF test, the same as her father.
Chief Complaint
E.J. presents to the healthcare facility reporting inability to breathe well, coughing, as well as abdominal pain and digestive problems. She reports experiencing severe fatigue over the last two weeks, and the patient thought she was getting burned out. Despite taking time off from work to stabilize her condition, her lung function and breathing, as well as her digestive and nervous systems, seem to be worsening. E.J. does not have an appetite and forces herself to eat something for sustenance.
Initial Diagnosis
The initial diagnosis applicable to E.J. is the exacerbation of symptoms of cystic fibrosis. The patient has already had genetic testing that diagnosed CF. However, additional screening, including a respiratory culture, a pulmonary function test, and a stool fat test, will allow for in-depth exploration of the current symptomology. The combination of adverse systems affecting the lungs, digestion, and other organs is characteristic of CF, which is a genetic disorder.
The mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene changes a protein that regulates the movement of salt in and out of cells (Mayo Clinic Staff, 2021). It affects mucus-producing cells, as well as cells that produce digestive juices and sweat, which, in normal conditions, are thin and slippery (Endres & Konstan, 2022). However, in individuals with CF, the gene that causes the disease thickens secretions, making them sticky; instead of lubricating, they plug ducts, tubes, and passageways, especially in the lungs and pancreas.
While the disease is progressive and requires individuals affected by it to care for themselves daily, their quality of life is higher than previously. While life expectancy is lower compared to non-affected individuals, some people with a CF diagnosis can live into their fifties (Mayo Clinic Staff, 2021). However, in E.J.’s case, the diagnosis can lead to complications that require immediate attention.
The combination of respiratory and digestive symptoms in cystic fibrosis results from the disease’s impact on multiple body systems. CF results in a thick, sticky mucus that clogs the airways, making it difficult for E.J. to breathe and leading to a persistent cough. Regarding the patient’s abdominal pain and digestive problems, CF affects the pancreas, leading to the production of thick mucus that can block pancreatic ducts and impede the normal absorption of nutrients from food.
Treatment
To alleviate the symptoms of difficulty breathing and persistent cough, the patient must undergo respiratory therapy. Specifically, chest physiotherapy and inhaled medications are often used to help clear mucus from the airways. Medications such as bronchodilators and antibiotics may also be prescribed to manage symptoms and prevent infections. Given that E.J. has already undergone enzyme replacement therapy, which was successful in managing symptoms, it is recommended that the therapy be repeated to help the patient improve digestion.
As an alternative treatment, nutritional therapy has been recommended. Pancreatic enzyme supplements are taken with meals to help break down and absorb nutrients properly, reducing abdominal discomfort. In addition, E.J. should have a high-calorie, nutrient-dense diet and take A, D, E, and K supplements. Besides, Certain herbs and botanical supplements may be used to support respiratory health and immune function in individuals with CF.
It must be noted that in recent years, the development of CFTR modulator drugs, such as ivacaftor, lumacaftor, and tezacaftor, has provided new therapeutic options (Aschenbrenner, 2020). The treatment targets the underlying genetic defect in cystic fibrosis and should be considered as an option in E.J.’s case (Dwight & Marshall, 2021). These drugs aim to improve the function of the CFTR protein and can positively impact symptoms, including respiratory and digestive issues.
Opinion
When completing the assignment, I dove deep into the diagnosis of cystic fibrosis, its causes, complications, and methods of treatment. As it is a genetic disorder, a comprehensive, multidisciplinary approach is imperative to improve patients’ quality of life. Before my research, I did not know that CF progresses and affects life expectancy significantly. The case illustrated that early diagnosis and regular medical care can alleviate the symptoms and complications the patient has presented with in the healthcare setting.
References
Aschenbrenner, D. S. (2020) New treatment for cystic fibrosis. American Journal of Nursing, 120(2), 21.
Dwight, M., & Marshall, B. (2021). CFTR modulators: transformative therapies for cystic fibrosis. Journal of Managed Care & Specialty Pharmacy, 27(2), 281–284.
Endres, T. M., & Konstan, M. W. (2022). What is cystic fibrosis? JAMA, 327(2), 191.
Mayo Clinic Staff. (2021). Cystic fibrosis.
