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Hepatobiliary Involvement in Cystic Fibrosis

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Cystic Fibrosis

Part of the book series: Respiratory Medicine ((RM))

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Abstract

The improved life expectancy of cystic fibrosis (CF) patients has increased the prevalence of extrapulmonary complications. Liver disease is present in about one-third of CF patients and presents in various forms. The clinically most relevant forms are cirrhosis, possibly arising from the pathognomonic focal biliary fibrosis, and non-cirrhotic portal hypertension. Various forms of liver disease may present in different age groups, including childhood. Cirrhosis mostly presents in the first or second decade of life. The pathogenesis of focal biliary fibrosis and cirrhosis in CF is incompletely understood, although the most accepted hypothesis envisions fibrosis as a response to stasis of inspissated bile, possibly with a second hit provided by increased pro-inflammatory responses of CF bile ducts to gut-derived microbial by-products. Since the disease is often subclinical until complications develop, and because serum liver enzymes are often nonspecifically elevated in CF, annual screening for structural liver disease is recommended. Once the diagnosis is established, treatment with ursodeoxycholate is often advised, although evidence for its efficacy remains a subject of discussion. The efficacy of CFTR modulators in preventing or reversing liver disease progression is not yet established. Complications of severe liver disease are related to portal hypertension, functional hepatic decompensation including exacerbation of malnutrition, and secondary complications of cirrhosis in other organs and may warrant liver transplantation. CF liver disease confers poorer survival and accounts for 2–3% of mortality among CF patients. Current research is aimed at diagnosing early, progressive disease noninvasively, as well as at the discovery of novel therapies.

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Authors and Affiliations

  1. Department of Pediatrics, University Medical Center Groningen, Groningen, The Netherlands

    Anna Bertolini

  2. Pediatric Gastroenterology, Department of Pediatrics, University Medical Center Groningen, Groningen, The Netherlands

    Frank A. J. A. Bodewes

  3. Pediatric Gastroenterology Unit, Department of Pediatrics, Hadassah Hebrew University Medical Center, Jerusalem, Israel

    Mordechai Slae & Michael Wilschanski

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  1. Anna Bertolini
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  2. Frank A. J. A. Bodewes
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  3. Mordechai Slae
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  4. Michael Wilschanski
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Correspondence to Michael Wilschanski .

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Editors and Affiliations

  1. The University of North Carolina at Chapel Hill, Department of Pediatrics, UNC Children’s Hospital, Chapel Hill, NC, USA

    Stephanie Duggins Davis

  2. Department of Pediatrics, University of Washington School of Medicine, Division of Pulmonary and Sleep Medicine, Seattle Children’s Hospital, Seattle, WA, USA

    Margaret Rosenfeld

  3. Department of Pediatrics, Indiana University School of Medicine, Division of Pediatric Pulmonology, Allergy and Sleep Medicine, Riley Hospital for Children at IU Health, Indianapolis, IN, USA

    James Chmiel

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Bertolini, A., Bodewes, F.A.J.A., Slae, M., Wilschanski, M. (2020). Hepatobiliary Involvement in Cystic Fibrosis. In: Davis, S., Rosenfeld, M., Chmiel, J. (eds) Cystic Fibrosis. Respiratory Medicine. Humana, Cham. https://doi.org/10.1007/978-3-030-42382-7_14

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