Alagille Syndrome: Current Understanding of Pathogenesis, and Challenges in Diagnosis and Management

Mohammed D Ayoub; Binita M Kamath

doi:10.1016/j.cld.2022.03.002

Alagille Syndrome: Current Understanding of Pathogenesis, and Challenges in Diagnosis and Management

Clin Liver Dis. 2022 Aug;26(3):355-370. doi: 10.1016/j.cld.2022.03.002. Epub 2022 Jun 25.

Authors

Mohammed D Ayoub¹, Binita M Kamath²

Affiliations

¹ Division of Gastroenterology, Hepatology, and Nutrition, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada; Department of Pediatrics, Rabigh Branch, King Abdulaziz University, PO Box 80205, Jeddah 21589, Saudi Arabia.
² Division of Gastroenterology, Hepatology, and Nutrition, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada. Electronic address: binita.kamath@sickkids.ca.

PMID: 35868679
DOI: 10.1016/j.cld.2022.03.002

Abstract

Alagille syndrome (ALGS) is a complex heterogenous disease with a wide array of clinical manifestations in association with cholestatic liver disease. Major clinical and genetic advancements have taken place since its first description in 1969. However, clinicians continue to face considerable challenges in the management of ALGS, particularly in the absence of targeted molecular therapies. In this article, we provide an overview of the broad ALGS phenotype, current approaches to diagnosis and with particular focus on key clinical challenges encountered in the management of these patients.

Keywords: Alagille syndrome; IBAT inhibitor; JAG1; Liver transplant; NOTCH2.

Publication types

Review

MeSH terms

Alagille Syndrome* / diagnosis
Alagille Syndrome* / therapy
Humans
Jagged-1 Protein / genetics
Phenotype
Receptor, Notch2 / genetics

Substances

Jagged-1 Protein
Receptor, Notch2