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Review
. 2022 Feb 23:15:353-364.
doi: 10.2147/JMDH.S295441. eCollection 2022.

Multidisciplinary Management of Alagille Syndrome

Jagadeesh Menon  1 , Naresh Shanmugam  1 , Mukul Vij  2 , Ashwin Rammohan  3 , Mohamed Rela  3
Affiliations
Review

Multidisciplinary Management of Alagille Syndrome

Jagadeesh Menon et al. J Multidiscip Healthc. .

Abstract

Alagille syndrome (ALGS) is an autosomal dominant disorder characterized by involvement of various organ systems. It predominantly affects the liver, skeleton, heart, kidneys, eyes and major blood vessels. With myriads of presentations across different age groups, ALGS is usually suspected in infants presenting with high gamma glutamyl transpeptidase cholestasis and/or congenital heart disease. In children it may present with decompensated cirrhosis, intellectual disability or short stature, and in adults vascular events like stroke or ruptured berry aneurysm are more commonly noted. Liver transplantation (LT) is indicated in children with cholestasis progressing to cirrhosis with decompensation. Other indications for LT include intractable pruritus, recurrent fractures, hepatocellular carcinoma and disfiguring xanthomas. Due to an increased risk of renal impairment noted in ALGS, these patients would require optimized renal sparing immunosuppression in the post-transplant period. As the systemic manifestations of ALGS are protean and a wider spectrum is being increasingly elucidated, a multidisciplinary team needs to be involved in managing these patients. Moreover, many basic-science and clinical questions especially with regard to its presentation and management remain unanswered. The aim of this review is to provide updated insights into the management of the multi-system involvement of ALGS.

Keywords: Alagille syndrome; chronic cholestasis; congenital heart disease; liver transplantation; multidisciplinary management; vascular anomalies.

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Conflict of interest statement

The authors report no conflicts of interest in this work.

Figures

Figure 1
Figure 1
(A) Liver biopsy displaying paucity of interlobular bile ducts (arrow, H&E, ×40). (B) Hepatocanalicular bilirubinostasis (arrow, H&E, ×15). (C) Liver biopsy displaying giant cell formation (arrow, H&E, ×20). (D) Explant liver with cholestasis.
Figure 2
Figure 2
(A) Explant liver with bridging fibrosis (arrow, H&E, ×10). (B) Explant liver with cirrhotic transformation (H&E, ×5). (C) Rhodanine stain showing red copper granules in hepatocytes (arrow, H&E, ×25). (D) Immunostaining with cytokeratin 7 showing duct loss (arrow, H&E, ×10). (E) Hepatocellular carcinoma (arrow, H&E, ×8).
Figure 3
Figure 3
Characteristic facies of Alagille syndrome. (A) In an infant with cholestasis of 2 months age. (B) In a 2-year-old child with Alagille syndrome.
See this image and copyright information in PMC

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