Epidemiology of Cystic Fibrosis

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Key points

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    The prognosis of cystic fibrosis has improved substantially so that now more than half of the patient population is in the adult age range.

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    Further improvements are expected because allele-specific therapies targeting the basic defect are being developed and reaching approval for use in the United States and other countries.

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    Although identification by newborn screening is now available in all 50 states by pancreatic function markers and mutation detection, the diagnosis remains a clinical

Changes in incidence and prevalence

CF was first formally described in 1938 by Dr Dorothy Andersen9 and evolved from a disease of malnutrition and death in early childhood to one in which there is considerable demand for adult care providers for middle-aged patients with CF. The 2013 median predicted survival of 40.7 years reflects decades of improved care delivery, and even now, the impact of newly approved CFTR modulating therapies is yet to be felt.10 Widely implemented newborn screening programs, therapies aimed at restoring

Cystic fibrosis–related conditions

The diagnostic category of Cystic Fibrosis Related Metabolic Syndrome (CRMS) was added to the US Patient Registry in 2010 for those infants identified at risk for CF through newborn screening with an indeterminate sweat chloride (≥30–59 mmol/L), and less than 2 known disease-causing mutations in CFTR (the gene that causes CF). In 2013, data for 502 patients with CRMS were recorded, accounting for 8.4% of all patients recorded in the US Patient Registry.2 An additional diagnostic category of

Diagnosis

Although newborn screening identifies a significant proportion of new diagnoses, CF remains primarily a clinical diagnosis. The CF Foundation–published guidelines for the diagnosis of CF state that the diagnosis should be based on the following: one or more clinical features, history of CF in a sibling, or a positive newborn screen plus laboratory evidence of an abnormality in the CFTR gene or protein.10 The gold standard for demonstrating an abnormality in the CFTR protein remains the sweat

Classification of mutant forms of cystic fibrosis transmembrane conductance regulator and their implications

Classification of the mutant form of CFTR in each patient is important, because allele-specific therapeutic options are becoming available for patients with CF. There are 6 classes of mutations.19, 20, 21 Class I mutations encode a premature stop codon and result in truncated and nonfunctional CFTR. Class II mutants produce protein that does not fold properly and is recognized and destroyed by the cell’s quality control machinery. Therefore, most CFTR from class II mutants do not reach the cell

Treatments directed at the basic defect

Exciting results have been obtained for a small molecule, ivacaftor, in class III and IV mutations that reach the surface but fail to open properly. Tested first in patients with the Gly551Asp mutation, ivacaftor treatment resulted in substantial increases in pulmonary function, reduced pulmonary exacerbations, significant weight gain, and normalization of the sweat chloride.24, 25 The approval of ivacaftor by the US Food and Drug Administration (FDA) in 2012 has led to sustained improvements

Clinical manifestations of cystic fibrosis

Despite advances in CFTR mutation analysis, 1.1% of patients in the US Registry have one or more unknown alleles.10 Thus, the cornerstone of diagnosis remains the clinical signs and symptoms. These signs and symptoms include pulmonary manifestations, gastrointestinal manifestations, and other organ systems affected by CFTR dysfunction.

Pulmonary manifestations include persistent infection with typical CF pathogens, such as Staphylococcus aureus, nontypeable Hemophilus influenzae, Pseudomonas

Outcomes in cystic fibrosis: improvements and challenges

Pulmonary and nutrition outcomes, as measured by FEV1% predicted and body mass index (BMI), respectively, have improved over the last decade across US Care Centers. These improvements are the result of an increasing armamentarium of treatments, robust registry data collection and analysis, and the regular application of evidence-based care guidelines through quality improvement initiatives.37 Lung function as measured by FEV1% predicted remains an important indicator of health and disease

Increasing adult population of cystic fibrosis patients

As pulmonary and nutrition outcomes improve overall, one of the most significant changes in the epidemiology of CF is the increasing adult population. The median age of people with CF in the US Registry is 17.9 years, and patients range up to age 85 years.10 The proportion of adult patients, defined as aged 18 years and older, increased from 29.2% in 1986 to 49.7% in 2013.10 This demographic shift creates significant challenges to CF care centers to provide care teams with age-appropriate

Cystic fibrosis centers: impact on outcomes

The CF care center remains the model of care delivery for both children and adults with CF, which focuses on delivering optimal care, providing access to clinical trials and to basic science research, and training future CF care providers.37 The role of the CF Center is to provide comprehensive care throughout all stages of life, focusing on the patient and family as a whole, and requires ongoing, reliable communication among the CF Care Team, other subspecialists, and primary care physicians.

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    Disclosure Statement: The authors have no industry connections or conflicts to declare.

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