Cystic Fibrosis (CF)


Cystic fibrosis (CF) is a genetic disease in which mutations in the cystic fibrosis transmembrane regulator (CFTR) gene lead to the formation of abnormal CFTR protein. Thick mucus accumulates in several organs, including the lungs and pancreas,1 blocking the airways and causing breathing problems. The thick mucus also causes intestinal obstruction and digestive difficulties as digestive enzymes are prevented from reaching the intestine.2 

Patients with CF require treatment by a multidisciplinary team to control symptoms and infections.3 The team includes physicians in specialties such as pulmonology and gastroenterology, nurses, dietitians, physical and respiratory therapists, psychologists, and social workers. The team may also include other specialists, such as pharmacists and endocrinologists.3 Specialists in the treatment of CF may be found through advocacy organizations, by referral, or through clinical trials.1 Treatment focuses in improving each patient’s quality of life and independence.3,4

Physicians

Typically, a pulmonologist monitors the patient’s lung function and is the primary physician in a CF care team. In addition, other specialists, such as gastroenterologists, are consulted.3 The medical team explains the condition and how it is managed to both patient and family, and prepares an individualized care plan in which all members of the care team participate.3,5 The medical team remains up to date on CF management guidelines and therapies, including clinical trials for which patients may be candidates.3

Nurses

In addition to participating in patient education after CF has been diagnosed, a nurse who specializes in CF care is often the point of contact for the patient and/or family. The nurse will coordinate communication between the patient and the other specialists on the care team.3 Patient education continues during the course of the disease with the support of this specialist. A CF nurse helps patients carry out their daily treatment plan and assists with any changes that may be implemented.3 The nurse also takes note of any psychological distress that the patient or family may be experiencing and alerts the care team to provide further follow-up.3

Dietitians

Patients with CF often have digestive issues that lead to malabsorption. To prevent malabsorption and its negative effect on disease outcomes, patients with CF should work with a dietitian to determine their energy intake and particular needs and to make any necessary adjustments.3 The dietitian will help establish a nutritional plan to ensure that the patient’s caloric intake is adequate. The plan often includes supplementation with fat-soluble vitamins and enzymes to avoid vitamin deficiency and complications related to diabetes and osteoporosis.3 Dietitians also work with patients who require enteral nutritional support.3,4

Physical and Respiratory Therapists

Respiratory therapy is essential in the daily life of patients with CF and can take as long as 1 to 5 hours per day, and includes a series of inhaled nebulized medications, including antibiotics and anti-inflammatory medications.6 Respiratory therapists administer pulmonary function tests; they also instruct and assist patients and their families in performing airway clearance techniques to facilitate the removal of thick mucus from the lungs. In addition, physical and respiratory therapists instruct patients on how to self-administer inhaled medication and how to care for any equipment they must use (eg, nebulizers and oxygen masks).3 

Regular exercise is important to maintain overall health and fitness and to improve lung function. Time for postural and strength exercises may be included in the patient’s daily schedule with the help of a physical therapist.3

Psychologists and Social Workers

Because of its numerous effects on daily life, the management of CF can be  physically and emotionally challenging to both caregivers and patients. Psychologists may offer support to patients living with a chronic disease like CF. They can help patients manage depression and anxiety3,4 and work with them to improve their adherence to the established treatment plan.3,7 In addition, they can support patients with psychotherapeutic interventions, and problems of nutrition and growth during the lung transplant process.7

Social workers are specialists in counseling patients who live with CF. They help patients cope with stress and deal with the social and financial challenges associated with the disease. Social workers can support patients in their professional life so that they can live independently within the community.4 They may also intervene during the transition from pediatric to adult care, which can be overwhelming as patients assume the responsibility for managing all aspects of their disease.3 

References

1. Cystic fibrosis. Genetic and Rare Disease Information Center (GARD). Accessed January 15, 2022.

2. Cystic fibrosis. Mayo Clinic. Accessed January 15, 2022.

3. Your CF care team. Cystic Fibrosis Foundation. Accessed January 15, 2022.

4. Goździk J, Majka-Sumner L, Cofta S, Nowicka A, Piorunek T, Batura-Gabryel H. Challenges in care of adult CF patients—the specialist cystic fibrosis team. Rocz Akad Med Bialymst. 2005;50(Suppl 1):42-45.

5. Questions to ask your doctor about cystic fibrosis. American Lung Association. Accessed January 15, 2022.

6. About CF. Cystic Fibrosis Research Institute. Accessed January 15, 2022.

7. Nobili RM, Duff AJ, Ullrich G, et al. Guiding principles on how to manage relevant psychological aspects within a CF team: interdisciplinary approaches. J Cyst Fibros. 2011;10(Suppl 2):S45-S52. doi:10.1016/S1569-1993(11)60008-8

Reviewed by Debjyoti Talukdar, MD, on 1/18/2022.

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