SEARCHNARRATIVE_REVIEWgastroenterology, cardiology

narrative_review·gastroenterology, cardiology, internal medicine, pediatrics, obstetrics and gynecology·PMC10522532

Management of adults with Alagille syndrome

Hepatology International · 5 authors, 4 centres

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TL;DR

It outlines diagnostic criteria, key organ system complications, transplant considerations, and pregnancy-related risks, emphasizing the need for coordinated multidisciplinary care.

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476 CHARS

A key focus is lifelong surveillance for complications, including hepatocellular carcinoma, renal disease progression, cerebrovascular anomalies, and pregnancy-related risks. The review discusses the pathophysiology of Notch signaling impairment and outlines management strategies for cholestatic pruritus, with a note on newer IBAT inhibitors. Implications underscore the necessity for personalized, multidisciplinary care coordinated between pediatric and adult specialists.

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narrative_review

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gastroenterology

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100% · A

ORIGINAL PAPER

PMC10522532

Management of adults with Alagille syndrome

Hepatology International

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ABSTRACT

Alagille syndrome (ALGS) is a complex rare genetic disorder that involves multiple organ systems and is historically regarded as a disease of childhood. Since it is inherited in an autosomal dominant manner in 40% of patients, it carries many implications for genetic counselling of patients and screening of family members. In addition, the considerable variable expression and absence of a clear genotype–phenotype correlation, results in a diverse range of clinical manifestations, even in affected individuals within the same family. With recent therapeutic advancements in cholestasis treatment and the improved survival rates with liver transplantation (LT), many patients with ALGS survive into adulthood. Although LT is curative for liver disease secondary to ALGS, complications secondary to extrahepatic involvement remain problematic lifelong. This review is aimed at providing a comprehensive review of ALGS to adult clinicians who will take over the medical care of these patients following transition, with particular focus on certain aspects of the condition that require lifelong surveillance. We also provide a diagnostic framework for adult patients with suspected ALGS and highlight key aspects to consider when determining eligibility for LT in patients with this syndrome.

CITATION EXPORT

Mohammed D. Ayoub, Ahmad A. Bakhsh, Shannon M. Vandriel et al.. Management of adults with Alagille syndrome. Hepatology International. (2023). https://doi.org/10.1007/s12072-023-10578-x

AUTHORS

5 · 4 CENTRES

Mohammed D. Ayoub, Ahmad A. Bakhsh, Shannon M. Vandriel, Verena Keitel, Binita M. Kamath

1https://ror.org/02ma4wv74grid.412125.10000 0001 0619 1117Department of Pediatrics, Faculty of Medicine, Rabigh Branch, King Abdulaziz University, Jeddah, Saudi Arabia
2grid.17063.330000 0001 2157 2938Division of Gastroenterology, Hepatology, and Nutrition, The Hospital for Sick Children, University of Toronto, 555 University Ave, Toronto, ON M5G 1X8 Canada
3https://ror.org/015ya8798grid.460099.20000 0004 4912 2893Department of Pediatrics, Faculty of Medicine, University of Jeddah, Jeddah, Saudi Arabia
4https://ror.org/00ggpsq73grid.5807.a0000 0001 1018 4307Department of Gastroenterology, Hepatology and Infectious Diseases, Faculty of Medicine, Otto Von Guericke University Magdeburg, Magdeburg, Germany