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Liver Disease in Cystic Fibrosis

  • Dominique DebrayEmail author
Chapter

Abstract

Cystic fibrosis-associated liver disease (CFLD) is characterized histologically by biliary obstruction, inflammation, and focal biliary cirrhosis which may progress to multilobular cirrhosis and portal hypertension in approximately 5–10% of patients. Knowledge of the underlying pathological aspects and optimal therapeutic management to prevent progression of the liver disease to cirrhosis are sorely lacking. CFLD is frequently asymptomatic leading to challenges in early diagnosis. If they develop, cirrhosis and portal hypertension are early events occurring mainly in the pediatric age, while end-stage liver disease with liver failure is a late event. Annual screening for liver involvement (hepatomegaly, splenomegaly at physical examination, persistent abnormalities of liver enzymes, and pathological ultrasonography of the liver) is recommended to detect pre-symptomatic signs of liver disease. A liver biopsy may be indicated if there is diagnostic doubt, to exclude other causes of liver disease. Several noninvasive tools to measure liver stiffness as an indirect measure of fibrosis are being evaluated among the pediatric CF population in order to identify patients at risk of cirrhosis and to document disease progression. There is no evidence that ursodeoxycholic acid halts the progression of liver disease. Management should focus on nutrition, prevention of bleeding, and variceal decompression. Ideal candidates for liver transplantation are CF patients who have clear evidence of end-stage liver disease with liver failure rather than severe portal hypertension, but adequate consideration should be given to the severity of other organ involvement. Early liver transplantation may be considered for children with deteriorating nutritional status and lung function as there is evidence that liver transplantation may prevent further decline.

Keywords

Cystic fibrosis CFTR Liver disease Cirrhosis Portal hypertension Liver transplantation Therapy 

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© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Pediatric Liver UnitReference Center for Biliary Atresia and Genetic Cholestatic Diseases, Hôpital Necker-Enfants MaladesParisFrance

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