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Best practice guidance for the diagnosis and management of cystic fibrosis-associated liver disease

Journal of Cystic Fibrosis, Volume 10, Supplement 2, July 2011, p S29-S36


Approximately 5–10% of cystic fibrosis (CF) patients develop multilobular cirrhosis during the first decade of life. Most CF patients later develop signs of portal hypertension with complications, mainly variceal bleeding. Liver failure usually occurs later, after the paediatric age. Annual screening for liver disease is recommended to detect pre-symptomatic signs and initiate ursodeoxycholic acid therapy, which might halt disease progression. Liver disease should be considered if at least two of the following variables are present: abnormal physical examination, persistently abnormal liver function tests and pathological ultrasonography. If there is diagnostic doubt, a liver biopsy is indicated. All CF patients with liver disease need annual follow-up to evaluate the development of cirrhosis, portal hypertension or liver failure. Management should focus on nutrition, prevention of bleeding and variceal decompression. Deterioration of pulmonary function is an important consideration for liver transplantation, particularly in children with hepatic dysfunction or advanced portal hypertension.

Keywords: Cystic fibrosis, Liver disease, Liver biopsy, Esophageal varices, Ultrasonography, Ursodeoxycholic acid.


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a Pediatric Hepatology, APHP – CHU Necker-Enfants Malades and INSERM, UMR-S 938, Centre de Recherche Saint-Antoine, Paris, France

b Liver Unit, Birmingham Children's Hospital, Birmingham, UK

c Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Center, Utrecht, The Netherlands

d Department of Biosciences and Nutrition, NOVUM, Karolinska Institutet, Stockholm, Sweden

e CF Center, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlínica, University of Milan, Milan, Italy

* Corresponding author: Carla Colombo, MD, Associate Professor of Pediatrics, University of Milan, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Cystic Fibrosis Center, Via Commenda 9, 20122 Milano, Italy. Tel.: +39 02 5503 2456; Fax: +39 02 5503 2814