Dabin-Johnson syndrome: causes, symptoms, diagnosis, treatment

Dubin-Johnson syndrome is a chronic benign disorder characterized by intermittent jaundice with elevated levels of predominantly conjugated bilirubin and biliribinuria. It is inherited in an autosomal recessive manner and is common primarily in the Middle East among Iranian Jews.

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Causes of Dubin-Johnson Syndrome

The basis of Dubin-Johnson syndrome (familial chronic idiopathic jaundice with unidentified pigment in liver cells) is a congenital defect of the excretory function of hepatocytes (postmicrosomal hepatocellular jaundice). In this case, the excretion of bilirubin from hepatocytes is impaired, which leads to regurgitation of quotient bilirubin into the blood (conjugated hyperbilirubinemia develops). Along with the defect of bilirubin excretion, there is a violation of the excretion of bromsulfalein, rose Bengal, and cholecystographic agents. The excretion of bile acids is not impaired.

Characteristic of Dubin-Johnson syndrome is the peribiliary deposition of a significant amount of dark-brown pigment in the cytoplasm of hepatocytes. Macroscopically, the liver has a color from bluish-green to almost black. The nature of the pigment has not been definitively established. A. F. Bluger (1984) suggests that its basis is melanin.

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Symptoms of Dubin-Johnson Syndrome

The disease may first manifest itself as jaundice during pregnancy or while taking oral contraceptives (both of these conditions cause deterioration of the excretory function of the liver). The prognosis is favorable.

The following symptoms are characteristic of Dubin-Johnson syndrome:

• the disease is transmitted in an autosomal dominant manner;
• men get sick more often;
• the first clinical signs of the disease are detected in the period from birth to 25 years;
• the main symptom of the disease is chronic or intermittent jaundice, not clearly expressed;
• Jaundice is accompanied by fatigue, nausea, loss of appetite, sometimes abdominal pain; rarely - mild itching of the skin;
• the bilirubin content in the blood is increased to 20-50 μmol/l (rarely up to 80-90 μmol/l) due to a predominant increase in the conjugated (direct) fraction;
• bilirubinuria is observed; urine is dark in color;
• the liver is not enlarged in most patients, although occasionally it is enlarged by 1-2 cm;
• The bromsulphalein test, as well as radioisotope hepatography, reveal a sharp disturbance of the excretory function of the liver; other functional tests of the liver are not significantly changed;
• X-ray examination of the biliary tract is characterized by the absence of contrast or late and weak filling of the bile ducts and bladder with contrast agent;
• no changes in blood counts;
• hepatocyte cytolysis syndrome is not typical.

The course of Dubin-Johnson syndrome is chronic and favorable. Exacerbations of the disease are associated with intercurrent infections, physical overexertion, psychoemotional stress, alcohol consumption, anabolic steroids, and surgeries. Dubin-Johnson syndrome is often complicated by the development of cholelithiasis.