Dubin-Johnson Syndrome, Diagnosis

November 6, 2023Chemical pathology Lab Tests

Table of Contents

Dubin-Johnson Syndrome

What sample is needed for Dubin-Johnson Syndrome?

Blood is needed to get the serum.
A random sample can be taken.

How will you define Dubin-Johnson syndrome?

Dubin-Johnson syndrome (DJ) is a benign condition and looks like mild viral hepatitis.
It is characterized by mild recurrent jaundice with hepatomegaly.

Pathophysiology of Dubin-johnson syndrome

This is a rare genetic autosomal recessive disorder (chromosome 10q24).
This is due to the inability to transport bilirubin-diglucuronide through the parenchymal hepatic cells into bile canaliculi.
This is a defect in the canalicular multispecific organic anion transport associated with increased plasma-conjugated bilirubin.

Dubin Johnson syndrome pathogenesis

There is mild jaundice with a total bilirubin of 2 to 5 mg/dL.
The liver has intense dark pigmentation due to the accumulation of lipofuscin pigment.
While the conjugation of bilirubin is regular.

Dubin-Johnson syndrome pathogenesis

What are the Signs and symptoms of Dubin-Johnson Syndrome?

There is a yellowness of the eyes and skin due to hyperbilirubinemia.
Mild jaundice, which may not appear until puberty or adulthood, is the only symptom of Dubin-Johnson syndrome.
The jaundice is nonpruritic.
Most of the patients are asymptomatic.

What are the Risk factors that increase jaundice?

Infection.
Pregnancy.
Birth control pills.
Use of alcohol.
Environmental factors that may affect the liver.

How will you Diagnose Dubin-Johnson Syndrome?

Serum bilirubin is raised (maybe 3 to 10 mg/ 100 ml). Approximately 50% is indirect bilirubin.
Serum SGOT and SGPT (ALT, AST) are normal.
Urine contains bile and urobilinogen.
A liver biopsy shows plenty of yellow or black pigments in the hepatocytes and gives the liver a black appearance.
Cholecystography shows the absence of the gallbladder.

Summary of Dubin-Johnson syndrome

Clinical features	Dubin-johnson syndrome features
Incidence	Uncommon
Inheritance method	Autosomal recessive (chromosome 10q24)
Pathogenesis	There is impaired biliary excretion of conjugated bilirubin
Clinical signs and symptoms	Asymptomatic jaundice in young adults Mild chronic, recurrent jaundice May have right upper quadrant pain May have hepatomegaly Compensated except for periods of stress jaundice may be due to estrogens, birth control tablets, and the last trimester of pregnancy
Serum bilirubin	Total = 2 to 7 mg/dL (1.5 to 6.0 mg/dL) and rarely <25 mg/dL Direct = ∼60%
Liver function tests	Normal except bilirubin
Age at the onset of jaundice	Childhood and adolescence
BSP test (Impaired excretion of the dye)	It is delayed There is an initial rapid fall, then a rise in 45 minutes (normal) increased at 90 and 120 minutes, which is characteristic.
Orla cholecystography	The gallbladder is usually not visualized
Liver biopsy	There are characteristic pigments, yellow-brown or slate-black pigments (black liver) Pigments are present in the centrilobular area and a small amount in kupffer cells.
Prognosis	Usually not bad (Not shorten the life)
Treatment	Not needed

How will you Treat Dubin-Johnson Syndrome?

This is a benign disease and does not need any specific treatment.
This patient should be given a warning for follow-up in case of pregnancy, oral contraceptives, and any illness that leads to an increase in the bilirubin level.
Phenobarbitone was used but is not now recommended.

What is the outcome of Dubon-Johson syndrome?

The picture is not gloomy and does not shorten the patient’s lifespan.

How will you describe different types of inherited jaundice?

Clinical parameters	Unconjugated Hyperbilirubinemia			Conjugated Hyperbilirubinemia
Clinical parameters	Gilbert’s disease	Type 1 Criggler-Najjar	Type II Criggler-Najjar syndrome	Rotor’s syndrome	Dubon-Jhonson syndrome
Inherited mode	Autosomal dominant	Autosomal recessive	Autosomal dominant	Autosomal recessive	Autosomal recessive
Incidence	<7% of the population	Very rare	Uncommon	Rare	Uncommon
Age at onset	In adolescence	In infancy	In childhood Adolescence	Early adulthood	Childhood Adolescence
Pathogenesis	Glucoronyl transferase enzyme deficiency (GTE)	GTE decreased	Marked decrease	Impaired conj. bilirubin excretion	Impaired cong. bilirubin excretion
Bilirubin level	Mostly indirect Decreased in fasting	Mainly indirect	Mainly indirect	Direct around 60% 2 to 7 and ≤20	Direct around 60% 2 to 7 and ≤25
Clinical signs/symptoms	Appear in early adulthood Mostly found in fasting Hemolysis is seen in ≤40%	Jaundice May see kernicterus in infants and young adults	Asymptomatic jaundice Kernicterus is rarely seen	Asymptomatic jaundice in young adults	Asymptomatic jaundice
Effect of phenobarbitone	Decreased to normal	There is no effect	Marked decrease	—–	—–
BSP (Dye excretion) test	May be mildly impaired in <40% of cases	It is absent	_____	Positive, Initial rapid fall and then rise in 40 to 90 minutes	Positive, Slow clearance and no rise
Oral cholecyctography	Normal	Normal	Normal	Normal	GB usually not visualized
Liver biopsy	Normal	—-	—-	No pigments	Characteristic pigments
Treatment	Not needed			There is no treatment	Not needed

Questions and answers:

Question 1: What is the mechanism of Dubin-Johnson Syndrome?

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Question 2: What is the color of the liver in Dubin-Johnson Syndrome?

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Comments

vinoth Reply

September 7, 2021

hello,
Im vinoth kambli,
doctor was confirmed for me . i have a dubin johnson syndrome.
problems a matter is im not able to clear medical test for foreighn jobs in any country.
so,please reply….any solutions?

Dr. Riaz Reply

Please read my article.

Muha Reply

March 15, 2023

Hello,
I am Muha,
I have liver function test. I have elevated direct bilirubin (5.9 umol/l) and ALP (311 U/l). All other parameters (ALT, AST, GGT, TP, Albumin and total bilirubin) are normal. Abdominal (liver) ultrasound reveals no abnormalities. I have mild intermittent colic. I am not sure what is going on. My doctor said nothing to worry about. I appreciate if you could help me. Thank you

Have you checked the viral profile (HBV, HCV)? If there is only raised direct bilirubin, then the possibilities are hereditary hyperbilirubinemia. Mostly these are benign conditions. You can try the tab. Phenobarbitone or consult a physician about this drug. It will lower the bilirubin level.

Thank you for your reply. Yes, I have checked for HCV in 2017 and it was negative. I have experienced an elevated ALP since I was 11 (16-year-old now). What is the tab?