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Cholestasis in Benign Recurrent Intrahepatic Cholestasis 2
Eric Arthur Lorio1, David Valadez1, Naim Alkhouri2
1Department of Medicine, University of Texas Health, San Antonio, TX.
ACG Case Reports Journal
|July 11, 2020
Summary
Benign recurrent intrahepatic cholestasis type 2, a rare liver disorder, was identified in a patient with multiple genetic factors. Steroid treatment showed promise for bile salt export pump-related diseases.
Area of Science:
- Hepatology
- Genetics
- Rare Diseases
Background:
- Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive disorder.
- It typically manifests as recurrent jaundice and intense pruritus.
Observation:
- A 27-year-old woman with BRIC type 2 was found to be heterozygous for mutations in ABCB11.
- She also carried heterozygous mutations in cystic fibrosis transmembrane conductance regulator, NPHP4, and A1ATD (SERPINA1).
Findings:
- The combination of heterozygous gene mutations may contribute to severe disease expression in cholestasis.
- The patient responded positively to steroid therapy.
Implications:
- Steroid treatment may offer a therapeutic avenue for bile salt export pump (BSEP)-related liver diseases.
- Understanding genetic interactions is crucial for managing complex cholestatic disorders.
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