ICD10 code of Dubin-Johnson syndrome and ICD9 code

Dubin-Johnson syndrome is classified under ICD-10 code E80.6 (Other disorders of bilirubin metabolism) and was historically categorized under ICD-9 code 277.4 (Disorders of bilirubin excretion). These codes are used by healthcare providers and insurance systems to accurately document this rare, benign, autosomal recessive condition characterized by chronic conjugated hyperbilirubinemia.

What is the clinical significance of Dubin-Johnson syndrome?

Dubin-Johnson syndrome is a rare, inherited metabolic disorder that affects the liver's ability to secrete conjugated bilirubin into the bile. Because the liver cannot effectively move bilirubin into the bile ducts, it leaks back into the bloodstream, leading to mild, persistent jaundice. Unlike other liver conditions, Dubin-Johnson syndrome typically does not result in liver damage, cirrhosis, or failure, and most individuals lead a normal life expectancy. The hallmark clinical feature is the dark pigmentation of the liver, caused by the accumulation of a pigment similar to melanin within the liver cells (hepatocytes).

How is Dubin-Johnson syndrome genetically transmitted?

The genetic basis of Dubin-Johnson syndrome involves mutations in the ABCC2 gene, which provides instructions for making a protein called the multidrug resistance-associated protein 2 (MRP2). This protein is responsible for transporting various substances, including bilirubin, out of liver cells. Dubin-Johnson syndrome follows an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of the mutated gene—one from each parent—to manifest the condition. Parents who are carriers of a single mutation typically do not exhibit symptoms of the disorder.

What are the diagnostic criteria for Dubin-Johnson syndrome?

Diagnosis of Dubin-Johnson syndrome is often suspected when a patient presents with isolated conjugated hyperbilirubinemia without elevated liver enzymes (such as ALT or AST). To confirm the diagnosis, clinicians may utilize specific diagnostic markers and testing methods:

• Urinary Coproporphyrin Analysis: A hallmark of Dubin-Johnson syndrome is an abnormal ratio of urinary coproporphyrin isomers, where coproporphyrin I accounts for more than 80% of the total urinary coproporphyrins.


• Liver Biopsy: While rarely required today due to genetic testing, a biopsy traditionally reveals a characteristic "black liver" appearance under gross examination.


• Genetic Testing: Sequencing of the ABCC2 gene can confirm the presence of pathogenic variants, providing a definitive molecular diagnosis.


• Imaging: Cholescintigraphy (HIDA scan) often shows delayed visualization of the gallbladder, which helps distinguish it from other conditions like Rotor syndrome.

How does the community support those living with Dubin-Johnson syndrome?

Living with a rare diagnosis like Dubin-Johnson syndrome can feel isolating, but understanding that the condition is benign is a crucial step in managing the psychological impact. Many patients at DiseaseMaps.org find comfort in connecting with others who share the experience of unexplained jaundice or the diagnostic journey. Because Dubin-Johnson syndrome requires no specific treatment or dietary changes, the focus is often on patient education and reducing anxiety regarding the long-term prognosis.

Next steps

• Consult a hepatologist or a medical geneticist to confirm your diagnosis through standardized testing.


• Request a copy of your genetic report to share with family members, as siblings may also be at risk for the condition.


• Join patient support communities on DiseaseMaps.org to share experiences and stay updated on rare liver metabolic research.


• Ensure your primary care physician is aware of your diagnosis, as certain medications may interact differently with your liver's transport pathways.

Medical disclaimer: This content is for educational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the guidance of a qualified healthcare provider with any questions regarding a medical condition.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Dubin-Johnson syndrome entry.


• Orphanet: Rare disease database entry for ORPHA266 (Dubin-Johnson syndrome).


• OMIM (Online Mendelian Inheritance in Man): #237500 (Dubin-Johnson syndrome; DJS).


• PubMed: Clinical reviews on ABCC2-mediated hyperbilirubinemia.