An Incidental Finding of an Indigo-Blue Liver in a Patient With Dubin-Johnson Syndrome Confirmed via Genetic Testing

TL;DR

A 29-year-old woman with chronic jaundice and a blue liver was diagnosed with Dubin-Johnson syndrome through genetic testing.

Contribution

This case expands the known clinical presentation of Dubin-Johnson syndrome by highlighting a rare blue liver appearance.

Findings

A blue liver was observed during surgery in a patient with Dubin-Johnson syndrome.

Genetic testing identified two pathogenic ABCC2 variants, including a novel mutation.

The case broadens the differential diagnosis for blue liver syndrome.

Abstract

We present the case of a 29-year-old female with chronic jaundice and a history of dyshidrosis, previously treated with cyclosporine. She also had hypertriglyceridemia managed with fibrates and was referred for evaluation of gallstone disease. Imaging confirmed gallstones without bile duct abnormalities. Laboratory tests revealed conjugated hyperbilirubinemia (total bilirubin: 3.0 mg/dL, direct bilirubin: 2.95 mg/dL). During laparoscopic cholecystectomy, a striking blue liver appearance was observed. A liver biopsy confirmed Dubin-Johnson syndrome (DJS). Genetic analysis revealed two pathogenic ABCC2 variants: c.2077G>A (p.Gly693Arg) and a novel mutation, c.513del (p.Tyr172Thrfs*6). This report highlights a rare "blue liver" presentation of DJS, thereby expanding the differential diagnosis of blue liver syndrome.

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