Case Report: Recurrent intrahepatic cholestasis: two rare cases with their novel variants of ATB8B1 and atypical clinical findings
By
Jiaxun Li
Qi Wei
Sicong Liu
Luyu Lv
Huarong Ding
Liping Guo
Diefei Hu
Qiuyue Ning
July 10, 2026
Clinical Scorecard: Case Study: Uncommon Variants of ATP8B1 in Siblings with Recurrent Intrahepatic Cholestasis and Distinct Clinical Presentations
At a Glance
Category Detail
Condition Recurrent intrahepatic cholestasis type 1 (RIC1) Key Mechanisms Pathogenic variants of ATP8B1 lead to cholestatic jaundice. Target Population Individuals with recurrent intrahepatic cholestasis, particularly those with ATP8B1 variants. Care Setting Clinical management of genetic liver disorders.
Key Highlights
RIC1 is an autosomal recessive disorder presenting with intermittent cholestatic jaundice. Novel compound heterozygous variants of ATP8B1 were identified in affected siblings. Cholestasis attacks can be precipitated by infections or pregnancy. Laboratory findings during attacks include elevated bilirubin and alkaline phosphatase levels. Histopathological examination often reveals central lobular cholestasis. Guideline-Based Recommendations
Diagnosis
Genetic testing for ATP8B1 variants is recommended for suspected RIC1 cases. Management
Hepatoprotective agents and medications to relieve cholestasis may be used. Monitoring & Follow-up
Regular monitoring of liver function tests during cholestasis attacks. Risks
Potential for severe complications such as sepsis following treatment. Patient & Prescribing Data
Siblings diagnosed with RIC1.
Combination therapies including glucocorticoids and azathioprine were attempted but may have led to adverse outcomes.
Clinical Best Practices
Consider genetic counseling for families with a history of RIC1. Monitor for complications during cholestasis attacks. Related Resources & Content
