Cystic Fibrosis Foundation Issues Guidelines on Disease Diagnosis and Treatment

The Cystic Fibrosis Foundation, a nonprofit donor-supported organization and world leader in the search for a cystic fibrosis cure, recently issued guidelines on the diagnosis and treatment of the disease. These guidelines were conceived by a committee of experts based on the available literature and clinical evidence reported.

Cystic fibrosis is a life-threatening genetic disease, in which a defective gene causes the body to form unusually thick, sticky mucus that can result in serious respiratory and gastrointestinal manifestations. According to the Foundation, there are 30,000 children and adults in the United States, and 70,000 worldwide, estimated to have cystic fibrosis. In the United States alone, around 1,000 new cases are diagnosed every year.

For the diagnosis of the disease, the Foundation recommends physicians to follow these guidelines:

– Diagnose cystic fibrosis if one or more clinical characteristics are identified, if a sibling has a history of cystic fibrosis or if there is a positive newborn screening test result. A laboratory test proving an abnormality in the cystic fibrosis transmembrane conductance regulator gene or protein is essential.
– Confirm a cystic fibrosis diagnosis by the sweat chloride test.
– Determine the sweat chloride levels as normal (≤ 39 mmol/L), intermediate (40 to 59 mmol/L) or abnormal (≥ 60 mmol/L) in all patients.
– In infants, confirm the cystic fibrosis diagnosis if the newborn screening test is positive and the sweat chloride level is ≥ 60 mmol/L.
– Regardless of age, confirm a diagnosis of cystic fibrosis in individuals who have cystic fibrosis symptoms or a positive family history of the disease and a sweat chloride value ≥ 60 mmol/L.

A second sweat chloride test is recommended to confirm the results, except if mutation analysis identifies two cystic fibrosis-causing mutations.

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For treatment, the Foundation recommends for patients with at least 6 years of age the continued use of:

– Inhaled tobramycin in patients asymptomatic or with mild lung disease, and with cultures of the airways positive for Pseudomonas aeruginosa bacteria;
– Dornase alfa (Pulmozyme, Genentech) in patients with moderate to severe lung disease to ameliorate lung function and decrease exacerbations; or
– Inhaled hypertonic saline to ameliorate lung function and decrease exacerbations.

“The introduction and use of specific medications will depend on the individual patient, their social situation and parental or patient preferences. We are hopeful that clinicians will find these recommendations to be useful in their care of patients with cystic fibrosis,” wrote the expert committee members who established the guidelines.

The goal of the Foundation is for the guidelines to facilitate a proper diagnosis and treatment application, to ultimately improve the lives of individuals with cystic fibrosis.

For more information on cystic fibrosis diagnosis and treatment, click here.