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Progressive familial intrahepatic cholestasis

Guidelines

Key sources

The following summarized guidelines for the evaluation and management of progressive familial intrahepatic cholestasis are prepared by our editorial team based on guidelines from the European Association for the Study of the Liver (EASL 2024).
1

Diagnostic investigations

Evaluation for BSEP alloimmunization: as per EASL 2024 guidelines, diagnose BSEP alloimmunization through the detection of anti-bile salt export pump antibodies in plasma or anti-canalicular antibodies upon immunofluorescence staining of liver tissue.
B
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Medical management

Ileal bile acid transporter inhibitors
As per EASL 2024 guidelines:
Consider offering ileal bile acid transporter inhibitors for medical interruption of the enterohepatic circulation to reduce pruritus in patients with missense mutations before considering liver transplantation.
B
Insufficient evidence to recommend medical over surgical interruption of the enterohepatic circulation to prolong native liver survival.
I

More topics in this section

  • Management of BSEP alloimmunization

Surgical interventions

Enterohepatic circulation interruption
As per EASL 2024 guidelines:
Consider performing surgical interruption of the enterohepatic circulation to prolong native liver survival in patients with a responsive genotype.
B
Consider performing surgical interruption of the enterohepatic circulation to reduce pruritus in patients with a responsive genotype before considering liver transplantation.
C

Follow-up and surveillance

Surveillance for HCC
As per EASL 2024 guidelines:
Obtain screening for HCC at 3-6-month intervals in patients with BSEP/ABCB11 deficiency with missense mutations.
B
Obtain screening for HCC at 3-month intervals in patients with BSEP/ABCB11 deficiency with biallelic predicted protein-truncating mutations.
B