TREATMENT OF CYSTIC FIBROSIS
There is currently no cure for cystic fibrosis (CF). However, many treatments are available that can help with symptoms and improve the quality of life. Understanding the cause and symptoms of CF has enabled a significant development in treatment options. While in the 1950s the median life expectancy for patients with CF was only a few months, over half of the babies with CF born today can expect to survive into at least their fifties1. Most of the CF-specific drugs available today were made possible thanks to the contribution of the world's leader in the search for CF cure, the Cystic Fibrosis Foundation2.
Treating CF aims to ameliorate the symptoms of the disease. The various therapeutic approaches are designed to clear out as much mucus out of the airways as possible, combat infections and inflammation, and supplement the nutritional needs of a CF patient. These treatments are generally beneficial to all people with CF regardless of their specific CFTR mutation. The newest branch of CF treatment available to patients is represented by special CFTR modulators, which are intended to restore CFTR function3. These modulators are effective only in CF patients with specific mutations (see Personalized treatment).
CF is connected with progressive lung deterioration. The main goal of the treatment is to loosen and remove mucus from the lungs and prevent and control infections. It is crucial that CF patients perform airway clearance techniques, which help move and clear mucus from the lungs. It is usually started with bronchodilators to widen the airways. During airway clearance techniques, mucus thinners (such as mucolytics) are used to help thin the mucus, so it is easier to cough out. Afterward, when the lungs are as clear as possible, it is the best time to use antibiotics to combat infections4.
There are several different airway clearance techniques that involve deep breathing, coughing, clapping or using vibrations to loosen the mucus. Chest physical therapy can be performed manually or using a high-frequency vibrating vest. Another way to clear the airways is to use special breathing techniques. Autogenic drainage uses different speeds of breathing to help move the mucus through the airways. In positive expiratory pressure therapy, the patient uses a device to breathe out against the resistance, which moves the mucus5.
The CF-specific mucus in the lungs traps harmful bacteria or viruses and causes infections, which in turn leads to inflammation. The cycle of infection-inflammation is very damaging to the lungs. To combat this, in addition to antibiotics, anti-inflammatory drugs are used to lower the exaggerated immune response.
A great way to improve your health is to exercise! Just as it is important for the general population, it is also very good for people with CF. Any kind of physical activity can help clear the mucus from the lungs and improve overall health. Ideally, physical exercise is not a replacement for the traditional airway clearance techniques, but rather a complementary activity 6. Moreover, exercise is perceived more like a social activity than a medical treatment, which helps normalize the patient's life. Nevertheless, patients with CF should not socialize with one another because there is a high risk of cross-infection7. To prevent patient-to-patient transmission of dangerous bacteria, it is best if the patients with CF socialize with people who do not have CF.
People with advanced lung disease could benefit from a lung transplant. However, it is not for everyone and organ transplantation also presents some risks. To get on the waiting list for a lung transplant, the patient needs to meet a lot of requirements8. It is important to understand that the lung transplant does not eradicate CF – the new lungs will not show symptoms of CF, but the digestive and reproductive systems will still be affected.
To treat digestive symptoms of CF, it is vital to supplement pancreatic enzymes. These help to absorb fat, protein and fat-soluble vitamins A, D, E and K, which are routinely administered. While respiratory exacerbations can cause a decrease in appetite, CF patients require more calories to combat inflammations. CF patients are recommended high-calorie, high-fat diet. When the oral intake is not enough, enteral tube feedings are commonly used. People with CF are also prone to diabetes, liver disease or intestinal cancer, so these issues need to be monitored and treated if necessary9.
When it comes to reproduction, most of the men with CF are infertile due to obstruction or absence of the vas deferens. These are the ducts that typically transport sperm to the urethra during ejaculation. Men with CF still produce sperm, which can be retrieved and used in an in in vitro fertilization procedure10. Women can have trouble conceiving because of a CF-related thick cervical mucus, but also due to ovulation problems caused by malnutrition. Pregnancy in women with CF can exacerbate the symptoms, so careful planning and monitoring are vital11. Depending on the CF status of their partner, the risk of their children inheriting CF can be very high. To minimize this risk, a prenatal or pre-implantation genetic diagnosis can be done.
- 1 - R. H. Keogh, R. Szczesniak, D. Taylor-Robinson, and D. Bilton, “Up-to-date and projected estimates of survival for people with cystic fibrosis using baseline characteristics: A longitudinal study using UK patient registry data.,” J. Cyst. Fibros., vol. 17, no. 2, pp. 218–227, 2018.
- 2 - https://www.cff.org/
- 3 - I. J. Haq et al., “Modulator therapies for cystic fibrosis,” Paediatrics and Child Health (United Kingdom), vol. 29, no. 4. Churchill Livingstone, pp. 151–157, 01-Apr-2019.
- 4 - https://www.cff.org/Life-With-CF/Treatments-and-Therapies/Airway-Clearance/Airway-Clearance-Techniques/
- 5 - D. Rogers and I. J. M. Doull, “Physiological principles of airway clearance techniques used in the physiotherapy management of cystic fibrosis,” Curr. Paediatr., vol. 15, no. 3, pp. 233–238, 2005.
- 6 - N. Ward et al., “Exercise is commonly used as a substitute for traditional airway clearance techniques by adults with cystic fibrosis in Australia: a survey,” J. Physiother., vol. 65, no. 1, pp. 43–50, Jan. 2019.
- 7 - T. J. Kidd, R. J. Soares Magalhães, S. Paynter, S. C. Bell, and ACPinCF Investigator Group, “The social network of cystic fibrosis centre care and shared Pseudomonas aeruginosa strain infection: a cross-sectional analysis.,” Lancet. Respir. Med., vol. 3, no. 8, pp. 640–50, Aug. 2015.
- 8 - K. J. Ramos et al., “Lung transplant referral for individuals with cystic fibrosis: Cystic Fibrosis Foundation consensus guidelines.,” J. Cyst. Fibros., vol. 18, no. 3, pp. 321–333, May 2019.
- 9 - S. Sabharwal, “Gastrointestinal Manifestations of Cystic Fibrosis.,” Gastroenterol. Hepatol. (N. Y)., vol. 12, no. 1, pp. 43–7, Jan. 2016.
- 10 - H. C. Smith, “Fertility in Men with Cystic Fibrosis Assessment, investigations and management,” Paediatric Respiratory Reviews, vol. 11, no. 2. pp. 80–83, Jun-2010.
- 11 - A. Lyon and D. Bilton, “Fertility issues in cystic fibrosis,” Paediatric Respiratory Reviews, vol. 3, no. 3. W.B. Saunders Ltd, pp. 236–240, 2002.