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.
Involvement of the liver and bile ducts in cystic fibrosis can be clinically silent. These guidelines highlight the role of screening in detection of liver involvement in cystic fibrosis.
Recommendations for Management of Liver and Biliary Tract Disease in Cystic Fibrosis. Sokol RJ, Durie PR, Cystic Fibrosis Foundation Hepatobiliary Disease Consensus Group. J Pediatr Gastroenterol Nutr. 1999; 28 Suppl 1:S1-S13.
Hepatobiliary complications of cystic fibrosis are increasingly recognized. Liver disease is now the third leading cause of death among people with CF. There is a wide spectrum of liver disease among people with CF, ranging from steatosis and neonatal cholestasis to cholelithiasis and multilobular cirrhosis. However, only 5-10 percent of people with CF develop CF-related cirrhosis.
Characterized predominantly by portal hypertension, CF cirrhosis is a disease of childhood onset with a median age of diagnosis of 10 years. The pathophysiology of liver disease remains uncertain. Advanced liver disease is primarily found in individuals with pancreatic insufficiency. Males and carriers of the Alpha-1 antitrypsin Z allele are at increased risk for advanced CF liver disease. To date, there are no proven therapies to prevent development or progression of CF-related cirrhosis.
The Cystic Fibrosis Foundation Hepatobiliary Disease Consensus Group published revised recommendations for management of liver and biliary tract disease in cystic fibrosis in 1999 with a summary of the recommendations outlined below. The recommendations were developed by expert consensus following review of the existing literature at the time. There have been several reviews and studies published since these guidelines, some of which are noted at the end of this review.
Physical exam: evaluation for stigmata of liver disease:
Biochemical evaluation of liver injury and function in those with suspected liver disease:
Upper gastrointestinal endoscopy:
A multidisciplinary approach is important and should include a pediatric or adult hepatologist, pulmonologist, surgeon experienced in hepatobiliary surgery, radiologist, and registered dietician.
For patients with decompensated cirrhosis, close collaboration with a liver transplant center should be established.
Careful examination by palpation and percussion of liver and spleen size and texture at each visit.
Yearly panel of liver blood tests (AST, ALT, GGT) should be performed in all CF patients.
Cholestasis, fibrosis, cirrhosis:
For those with significant cholestasis, formulas containing medium chain triglyceride (MCT) will help promote absorption of dietary lipids.
Monitoring of fat-soluble vitamin levels should occur every 6-12 months; and 1-2 months after a change in dietary supplementation dosing.
CF patients often require high doses of vitamins A, D, E, and K to obtain optimal serum levels.
Bleeding from esophageal varices should be managed as in any other cause of varices (hemodynamic stabilization followed by direct variceal treatment, such as variceal band ligation).
Beta blocker therapy should be used cautiously in those patients with asthma or other airway hyperreactivity syndromes.
Ascites should be treated sequentially with careful salt restriction, diuretic therapy, and, if refractory, paracentesis. Transjugular intrahepatic portosystemic shunt (TIPS) should be considered if severe and unresponsive to medical management.
Hepatic encephalopathy may be treated with dietary protein restriction, lactulose, and use of oral antibiotics.
Spontaneous bacterial peritonitis should be treated with systemic antibiotics once blood and ascetic fluid cultures have been obtained.
Referral to a liver transplant center should be considered for patients with complications from portal hypertension unresponsive to medical management.
Liver failure is rare in cystic fibrosis and when it does occur, usually occurs late in the course of disease.
Referral to an experienced liver transplant center when there is evidence of decompensated cirrhosis: difficult to control ascites, prolonged prothrombin time unresponsive to vitamin K, hyperammonemia, and encephalopathy.
Liver transplantation should be considered especially if pulmonary function is well preserved.
In 2007, the CF Foundation organized a group of hepatologists to further clarify the definition/classification of CF-related liver disease and suggested the following classification (Flass 2013):
Relevant manuscripts published after the original guidelines are listed below. These manuscripts have not been reviewed or endorsed by the guidelines committee.
Bodewes FA, van der Doef HP, Houwen RH, Verkade HJ. Increase of Serum γ-Glutamyltransferase Associated With Development of Cirrhotic Cystic Fibrosis Liver Disease. J Pediatr Gastroenterol Nutr. 2015 Jul;61(1):113-8. doi: 10.1097/MPG.0000000000000758.
Michael R. Narkewicz, M.D., (University of Colorado School of Medicine) and Molly A. Bozic, M.D., (Indiana University School of Medicine)
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