Dubin-Johnson Syndrome Presenting During Cardiac Transplantation Evaluation

Area of Science:

• Hepatology
• Genetics
• Transplant Surgery

Background:

• Dubin-Johnson syndrome is a rare autosomal recessive disorder characterized by conjugated hyperbilirubinemia.
• It typically presents with intermittent jaundice and lacks significant long-term hepatic complications.
• The syndrome is caused by mutations in the ABCC2 gene, affecting bilirubin excretion.

Observation:

• A case of Dubin-Johnson syndrome was diagnosed during evaluation for a heart transplant due to cardiomyopathy.
• The patient had a history of polyglycogen storage disease.
• The patient successfully underwent an orthotopic heart transplant.

Findings:

• Post-orthotopic heart transplant, the patient experienced a transient increase in conjugated hyperbilirubinemia compared to her baseline.
• The elevated bilirubin levels resolved spontaneously within several weeks after the surgery.
• Urinary coproporphyrin levels were identified as a valuable diagnostic marker for Dubin-Johnson syndrome.

Implications:

• This case highlights the importance of considering Dubin-Johnson syndrome in patients with unexplained conjugated hyperbilirubinemia, even during complex medical evaluations like cardiac transplantation.
• The findings suggest that patients with Dubin-Johnson syndrome can safely undergo major surgery, such as heart transplantation, with careful postoperative monitoring of liver function.
• The review underscores the utility of urinary coproporphyrin analysis in diagnosing Dubin-Johnson syndrome, particularly in challenging clinical scenarios.