What Are Special Considerations for Patients With Cystic Fibrosis?

Introduction and Scope of the Problem

Cystic fibrosis (CF), one of the most common life-limiting genetic disorders, affects more than 70,000 individuals worldwide and their families. Although most prevalent among those of Caucasian descent, CF affects people of all races and ethnicities. While CF has traditionally been conceptualized as a disease of childhood and young adulthood, advances in therapies have approximately doubled the median predicted survival from 1986 to 2018. Most notably, therapeutic advancements such as the use of cystic fibrosis transmembrane regulator (CFTR) modulator therapies, for which approximately 90% of the CF population will soon be eligible, represent a new era in CF management. Despite these promising advances, individuals with CF experience myriad physical, emotional, existential, psychosocial, and logistical burdens, all of which negatively impact their quality of life. Furthermore, people with CF and their families still endure the challenges associated with a life-limiting chronic illness, including the burden of numerous therapies and disease exacerbations, the knowledge of a limited lifespan, the responsibility of complex decision making regarding lung transplant and other intensive treatments, and the stigma and impact on life goals associated with a life-limiting genetic disease. Whereas extensive research exists describing the palliative needs of people with CF and their families, there is a striking lack of evidence from interventional studies of palliative care to address CF-related suffering.

As research and attention regarding the role of palliative medicine in CF continues to grow, palliative care clinicians will likely be called upon to support patients with CF, their families, and their existing care teams. Yet, given the relative rarity of the disease and the historically low rate of palliative care consultation in CF, palliative care clinicians may feel unprepared to navigate the idiosyncratic disease characteristics and therapeutic considerations of this population. As such, this chapter provides an overview of CF, its relevant pathophysiology, and a review of the specific factors that make providing palliative care in CF unique.

Relevant Pathophysiology

CF results from mutations in the CFTR gene, causing abnormal chloride ion transport across epithelial cells lining the airways, pancreatic ducts, gastrointestinal tract, and reproductive organs. Clinical manifestations of this defect include recurrent respiratory infections, nutritional deficiencies related to malabsorption from pancreatic exocrine insufficiency, intestinal obstruction, diabetes, hepatobiliary disease, and male infertility. While the broad physical manifestations of CF as well as the emotional toll of living with a serious and burdensome illness contribute to morbidity, mortality in CF is largely due to respiratory failure. Chronic endobronchial infection, inflammation, and obstruction lead to progressive decline in lung function, with eventual respiratory failure. Progression can be slowed by disease-directed therapies, but lung transplantation, a high-risk treatment with unpredictable individual outcomes, is the only definitive treatment for end-stage lung disease.

Summary of Evidence Regarding Treatment Recommendations