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KEY CONCEPTS

KEY CONCEPTS

  • Image not available. Good nutrition with appropriate pancreatic enzyme and vitamin supplementation are essential in the management of cystic fibrosis (CF).

  • Image not available. Airway clearance and anti-inflammatory therapies are key components to improve pulmonary health in CF patients.

  • Image not available. Antipseudomonal agents are the cornerstone of antibiotic therapy for chronic lung infections in the CF patient.

  • Image not available. Altered pharmacokinetics of CF patients can impact the dosing and clearance of pharmacologic therapy.

“Woe to that child which when kissed on the forehead tastes salty. He is bewitched and soon must die.” This European adage accurately describes the fate of an individual diagnosed with cystic fibrosis (CF) during ancient times.1

CF is a disease state resulting from a dysfunction in the cystic fibrosis transmembrane conductance regulator (CFTR). It is the most common life-limiting genetic disorder in the Caucasian population, with an incidence of 1 in 2,000 to 4,000 live births and a prevalence of 30,000 affected individuals in the United States.2,3,4,5,6,7

Currently with care, affected individuals have an expected life span of 41 years. Multiple organ systems are affected in CF individuals, especially, the lungs, the digestive system, and the reproductive organs. Mortality is most commonly due to chronic organ damage or resistant pulmonary infections.8

The pharmacist plays an essential role in the development and management of a pharmacotherapeutic care plan for the CF patient.

EPIDEMIOLOGY

CF occurs in approximately 1 in 3,500 Caucasian newborns. In the 1970s, patients only survived into their teen years. By 2013, progress in care had extended survival to 41 years. Institution of care at a young age impacts long-term survival; hence, timing of diagnosis and recognition of signs and symptoms are crucial.2,3,4,5,6,7

Although CF occurs in all ethnicities, other ethnicities besides the Caucasian population display lower frequencies: 1 in 13,500 Hispanic-Americans, 1 in 15,000 African Americans, and 1 in 31,000 to 100,000 Asians, Native Hawaiian, and Pacific Islanders. The carrier frequency is 1 in 28 North American white populations, 1 in 29 Ashkenazi Jews, and 1 in 84 African Americans.6

Etiology

The cause of CF is due to a mutation of the CFTR gene. Extensive genetic studies have increased awareness regarding the large spectrum of mutations in the CF population. Over 1,800 mutations have been identified due to the extensive collaboration of the CF Foundation with international researchers. The most common mutation identified in CF patients is ΔF508.3

CF is an autosomal recessive disease, in which one mutation present on each allele of the CFTR gene results in presentation of the disease. The presentation of a mutation on only one allele of the CFTR gene will prevent the full expression of CF. Genetic studies ...

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