Learn about cystic fibrosis, a genetic disorder that affects the lungs, pancreas, and other organs, and how to treat and live with this chronic disease.
CF is a rare genetic disease found in about 30,000 people in the U.S. If you have CF or are considering testing for it, knowing about the role of genetics in CF can help you make informed decisions about your health care.
If you or your child has just been diagnosed with cystic fibrosis, or your doctor has recommended testing for CF, you may have many questions.
Diagnosing CF is a multistep process. A complete diagnostic evaluation should include a newborn screening, a sweat chloride test, a genetic or carrier test, and a clinical evaluation at a CF Foundation-accredited care center.
Raising a child with cystic fibrosis can bring up many questions because CF affects many aspects of your child’s life. Here you’ll find resources to help you manage your child’s daily needs and find the best possible CF care.
Living with cystic fibrosis comes with many challenges, including medical, social, and financial. By learning more about how you can manage your disease every day, you can ultimately help find a balance between your busy lifestyle and your CF care.
People with CF are living longer, healthier lives than ever before. As an adult with CF, you may reach key milestones you might not have considered. Planning for these life events requires careful thought as you make decisions that may impact your life.
People with cystic fibrosis are living longer and more fulfilling lives, thanks in part to specialized CF care and a range of treatment options.
Cystic Fibrosis Foundation-accredited care centers provide expert care and specialized disease management to people living with cystic fibrosis.
We provide funding for and accredit more than 120 care centers and 53 affiliate programs nationwide. The high quality of specialized care available throughout the care center network has led to the improved length and quality of life for people with CF.
The Cystic Fibrosis Foundation provides standard care guidelines based on the latest research, medical evidence, and consultation with experts on best practices.
As a clinician, you’re critical in helping people with CF maintain their quality of life. We’re committed to helping you partner with patients and their families by providing resources you can use to improve and continue to provide high-quality care.
As part of the Cystic Fibrosis Foundation's mission to help improve the lives of people living with cystic fibrosis, the PSDC initiative taps the CF community to inform key efforts to support the management of daily care.
Your cystic fibrosis care team includes a group of CF health care professionals who partner with you to provide specialized, comprehensive CF care.
Many cystic fibrosis patients and families face complicated issues related to getting the care they need. But CF Foundation Compass makes sure that no one has to do it alone.
For many people with cystic fibrosis, dealing with insurance is as much a part of living with the disease as nebulizers and vests. Many people with CF and their families face issues related to getting the care they need, but no one has to do it alone.
The Cystic Fibrosis Foundation is the world’s leader in the search for a cure for CF and supports a broad range of research initiatives to tackle the disease from all angles.
The CF Foundation offers a number of resources for learning about clinical trials and treatments that are being developed to improve the treatment of cystic fibrosis.
Our understanding of CF continues to evolve as scientists study what causes the disease and how it affects the body. These insights drive the development of new and better treatments and bring us one step closer to a cure.
Researchers, supported by the CF Foundation, have made tremendous advances to improve the health and quality of life of people with CF. We are committed to providing the tools and resources you need to continuously build upon this work.
These guidelines were developed by consensus based on expert opinion and a medical literature review to guide the monitoring and care of infants who have an abnormal cystic fibrosis newborn screening result, but do not meet the full criteria for a CF diagnosis.
Borowitz D, Parad RB, Sharp JK, Sabadosa KA, Robinson KA, Rock MJ, Farrell PM, Sontag MK, Rosenfeld M, Davis SD, Marshall BC. Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. J Pediatr. 2009;155(6 Suppl):S106-16
In 2008, the Cystic Fibrosis Foundation published guidelines for the diagnosis of cystic fibrosis in newborns through adulthood. However, a group of infants identified through newborn screening (NBS) programs posed a diagnostic and management dilemma. They showed:
Furthermore, these infants were often asymptomatic.
A committee of experts was therefore established to propose diagnostic and management guidelines to guide the monitoring and care of these individuals. The term CFTR-related metabolic syndrome (CRMS) was proposed to:
Since the publication of the original guideline in 2009, there have been a significant number of new publications relevant to this subject. These are listed at the end of this summary.
CF NBS programs work by detecting elevated levels of immunoreactive trypsinogen (IRT) in a blood sample collected at birth. Most programs also perform mutation analysis on the CFTR gene on select samples with an elevated IRT value.
An increasing number of infants are identified to have hypertrypsinogenemia by NBS, but with subsequent SC values that are less than 60 millimoles per liter (mmol/L) and with fewer than two CF-disease causing mutations. Therefore, these individuals do not meet the CF Foundation guidelines for the diagnosis of CF, and there is a paucity of evidence upon which to base management decisions for this group of individuals. This guideline was developed to guide the monitoring and management of these individuals in a quickly evolving field of science.
An expert committee, using the Delphi methodology, reached systematic consensus on proposed recommendations. Committee members rated their level of agreement with each statement on a scale from zero to nine, with values between seven and nine considered good agreement. Consensus was defined as at least 80 percent in good agreement in two separate rounds of revision.
Infants with an initial SC concentration in the intermediate range (30-59 mmol/L) should have a repeat sweat test by 2 months of age.
If an infant is found to have a persistently elevated SC concentration in the intermediate range, extended CFTR mutation analysis should be conducted.
A third sweat test should be performed at approximately 6 months of age.
Based on the 2009 consensus guidelines, infants should be considered to have CRMS if they have either:
Updated guidelines for diagnosis of CRMS are available. These guidelines define an infant to have CRMS if he or she is asymptomatic with a positive NBS test and has either:
Access to genetic counseling and evaluation by a CF specialist should be made available to infants with CRMS.
A genetic counselor should be present if possible during discussion of genetic findings in patients with CRMS.
Infants with CRMS should be monitored by their primary care provider (PCP) and a CF clinician.
Monitoring of infants with CRMS is recommended due to increased risk for development of CF-like symptoms. In some individuals, evolving signs and symptoms, new information about disease-causing CFTR mutations, or changes in SC concentrations may ultimately lead to a diagnosis of CF.
The CF specialist should communicate directly with the PCP to discuss implication of CRMS immediately after the initial assessment.
The PCP should contact the CF specialist for any symptoms that are not resolving in two weeks, including weight loss, loose stool or flatus, abdominal pain, and respiratory symptoms that may be concerning for CF-like symptoms.
An infant with CRMS should be assessed by a CF specialist by no later than 2 months of age.
Infants with CRMS should be assessed in a clinic adherent to CF Foundation guidelines for patients with CF or in a clinic separate from patients with CF.
Care for an infant with CRMS may be provided by a CF specialist alone, outside the context of a full CF team, while ancillary personnel may need to see the individual with CRMS on an as-needed basis.
At the initial visit, a complete history and physical exam should be performed in addition to an objective measure of pancreatic function and oropharyngeal culture.
A chest X-ray should only be obtained if respiratory symptoms are present.
Consensus was not achieved as to whether laboratory tests should be obtained at the time of the initial visit.
Delphi Method: No Consensus
Routine use of more extensive testing, such as chest computer tomography, nasal potential difference (NPD), and bronchoscopy with bronchoalveolar lavage (BAL), is not recommended.
Individuals with CRMS may be treated per CF protocol if Pseudomonas aeruginosa is found on an oropharyngeal swab, even if a definitive diagnosis of CF has not been established.
Asymptomatic infants with CRMS should be seen by a CF specialist at least twice in the first year of life and yearly thereafter if they remain symptom free.
Oropharyngeal swabs should be obtained at each visit and processed in the same manner as CF sputum.
Consensus was not achieved in regard to recommendations for salt supplementation or the need to check fat-soluble vitamin levels.
In the absence of clinical or radiologic evidence of lung disease, routine airway clearance therapy should not be prescribed.
Airway clearance therapy may be considered if individuals with CRMS have recurrent or prolonged respiratory symptoms or have chest X-ray findings suggestive of lower airway disease.
Individuals with CRMS should not be exposed to cigarette smoke.
Individuals with CRMS should receive an annual influenza vaccine.
Pancreatic function status, such as fecal elastase, may be rechecked in individuals with CRMS who show signs of malabsorption such as poor weight gain, loose stools, and increased abdominal flatus.
Relevant manuscripts published after the original guidelines are listed below. These manuscripts have not been reviewed or endorsed by the guidelines committee.
Follow Us On
With more than 70 chapters and offices across the country, it’s easy to find and join a local Cystic Fibrosis Foundation chapter near you.
Cystic Fibrosis Foundation
4550 Montgomery Ave.
Suite 1100 N
Bethesda, MD 20814
800-344-4823 (toll free)
Sign up for our emails