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Review
. 2020 Nov 6;10(11):907.
doi: 10.3390/diagnostics10110907.

Alagille Syndrome: Diagnostic Challenges and Advances in Management

Mohammed D Ayoub  1   2 , Binita M Kamath  1
Affiliations
Review

Alagille Syndrome: Diagnostic Challenges and Advances in Management

Mohammed D Ayoub et al. Diagnostics (Basel). .

Abstract

Alagille syndrome (ALGS) is a multisystem disease characterized by cholestasis and bile duct paucity on liver biopsy in addition to variable involvement of the heart, eyes, skeleton, face, kidneys, and vasculature. The identification of JAG1 and NOTCH2 as disease-causing genes has deepened our understanding of the molecular mechanisms underlying ALGS. However, the variable expressivity of the clinical phenotype and the lack of genotype-phenotype relationships creates significant diagnostic and therapeutic challenges. In this review, we provide a comprehensive overview of the clinical characteristics and management of ALGS, and the molecular basis of ALGS pathobiology. We further describe unique diagnostic considerations that pose challenges to clinicians and outline therapeutic concepts and treatment targets that may be available in the near future.

Keywords: Alagille syndrome; JAG1; NOTCH2; bile duct paucity; intestinal bile acid transporters.

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Conflict of interest statement

B.M.K. provides consultations for Mirium, Albireo, and Audentes. B.M.K. receives unrestricted educational grant funding from Mirium 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 manuscript, or in the decision to publish the results.

Figures

Figure 1
Figure 1
Clinical features of alagille syndrome. (A) Characteristic facies with prominent forehead, hypertelorism, straight nose with a bulbous tip, and a pointed chin. Parental consent was obtained for use of this photograph. (B) Cutaneous xanthoma of the palmar surface of the hand. (C) Xanthoma on the elbow.
See this image and copyright information in PMC

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