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Alagille syndrome

Guidelines

Key sources

The following summarized guidelines for the evaluation and management of Alagille syndrome are prepared by our editorial team based on guidelines from the European Association for the Study of the Liver (EASL 2024), the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP 2022), and the American Society of Transplantation (AST/NASPGHAN/AASLD 2014).
1
2
3

Screening and diagnosis

Indications for testing: as per SIGENP 2022 guidelines, test for Alagille syndrome using specific tests before any invasive diagnostic procedure in infants with cholestasis, as it may mimic biliary atresia.
B
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Diagnostic procedures

Liver biopsy: as per EASL 2024 guidelines, do not perform routine liver biopsy to determine the prognosis or for the management of liver disease in patients with Alagille syndrome.
D

Medical management

Ileal bile acid transporter inhibitors: as per EASL 2024 guidelines, offer ileal bile acid transporter inhibitors, when available, in patients with Alagille syndrome and cholestatic pruritus.
B

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Surgical interventions

Liver donation
As per AASLD/AST/NASPGHAN 2014 guidelines:
Consider using living donation from a first-degree family member for patients with Alagille syndrome, but obtain a careful donor evaluation with liver biopsy and/or cholangiography to rule out bile duct hypoplasia.
C
Obtain a careful evaluation of the donor for bile duct hypoplasia and vascular anomalies if the potential donor and recipient share the same mutant JAG1 or NOTCH2 allele, but do not perform living-related liver transplantation in most circumstances.
B