Alagille Syndrome: Current Understanding of Pathogenesis, and Challenges in Diagnosis and Management
- PMID: 35868679
- DOI: 10.1016/j.cld.2022.03.002
Alagille Syndrome: Current Understanding of Pathogenesis, and Challenges in Diagnosis and Management
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.
Copyright © 2022 Elsevier Inc. All rights reserved.
Conflict of interest statement
Disclosure B.M. Kamath is a Consultant for Mirum, Albireo, Audentes and Third Rock Ventures. The author receives unrestricted educational grant funding from Mirum and Albireo. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the article, or in the decision to publish the results. M.D. Ayoub has nothing to disclose.
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