Diagnosis and management of benign recurrent intrahepatic cholestasis and psychosocial stressors in an adolescent: A case report

Abstract

BACKGROUND

Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive disorder, characterized by episodes of intense pruritus, elevated serum levels of alkaline phosphatase and bilirubin, and near-normal -glutamyl transferase. These episodes may persist for weeks to months before spontaneously resolving, with patients typically remaining asymptomatic between occurrences. Diagnosis entails the evaluation of clinical symptoms and targeted genetic testing. Although BRIC is recognized as a benign genetic disorder, the triggers, particularly psychosocial factors, remain poorly understood.

CASE SUMMARY

An 18-year-old Chinese man presented with recurrent jaundice and pruritus after a cold, which was exacerbated by self-medication involving vitamin B and paracetamol. Clinical and laboratory evaluations revealed elevated levels of bilirubin and liver enzymes, in the absence of viral or autoimmune liver disease. Imaging excluded biliary and pancreatic abnormalities, and liver biopsy demonstrated centrilobular cholestasis, culminating in a BRIC diagnosis confirmed by the identification of a novel ATP8B1 gene mutation. Psychological assessment of the patient unveiled stress attributable to academic and familial pressures, regarded as potential triggers for BRIC. Initial relief was observed with ursodeoxycholic acid and cetirizine, followed by an adjustment of the treatment regimen in response to elevated liver enzymes. The patient's condition significantly improved following a stress-related episode, thanks to a comprehensive management approach that included psychosocial support and medical treatment.

CONCLUSION

Our research highlights genetic and psychosocial influences on BRIC, emphasizing integrated diagnostic and management strategies.

Keywords: Benign recurrent intrahepatic cholestasis, Genetic testing, Psychosocial factors, ATP8B1 gene mutation, Cholestasis, Jaundice, Pruritus, Case report

Core tip: Benign recurrent intrahepatic cholestasis (BRIC) is a rare genetic disorder characterized by recurrent episodes of jaundice and pruritus. Our study emphasizes the significance of genetic testing in diagnosing BRIC, particularly in identifying ATP8B1 gene mutations. Additionally, we highlight the impact of psychosocial stressors on BRIC's course, advocating for comprehensive management strategies integrating both genetic insights and psychosocial support.