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Hyperbilirubinemia is a clinical condition describing an elevation of blood bilirubin level due to the inability to properly metabolise or excrete bilirubin, a product of erythrocytes breakdown. In severe cases, it is manifested as jaundice, the yellowing of tissues like skin and the sclera when excess bilirubin deposits in them. [1]
Rotor type hyperbilirubinemia is a distinct yet similar disorder to Dubin–Johnson syndrome [1] – both diseases cause an increase in conjugated bilirubin, but Rotor syndrome differs in that it is a result of impaired hepatocellular storage of conjugated bilirubin that leaks into plasma causing hyperbilirubinemia.
Hereditary hyperbilirubinemia refers to a group of conditions where levels of bilirubin, a byproduct of red blood cell metabolism, are elevated in the blood due to a genetic cause. [1] Various mutations of enzymes in the liver cells, which breakdown bilirubin, cause varying elevated levels of bilirubin in the blood. [ 2 ]
Gilbert syndrome (GS) is a syndrome in which the liver of affected individuals processes bilirubin more slowly than the majority. [1] Many people never have symptoms. [1] Occasionally jaundice (a slight yellowish color of the skin or whites of the eyes) may occur. [1]
In alcoholic liver disease, the mean ratio is 1.45, and mean ratio is 1.33 in post necrotic liver cirrhosis. Ratio is greater than 1.17 in viral cirrhosis, greater than 2.0 in alcoholic hepatitis, and 0.9 in non-alcoholic hepatitis. Ratio is greater than 4.5 in Wilson disease or hyperthyroidism. [6]
Around 80 to 99% of people with Dubin–Johnson syndrome have jaundice, [3] [4] abnormal urinary color, biliary tract abnormality, and conjugated bilirubinemia. [4] Around 30 to 79% of people with the disorder have abnormality of the gastric mucosa. [4] Other rare symptoms include fever and fatigue. [3]
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Kernicterus is a bilirubin-induced brain dysfunction. [1] The term was coined in 1904 by Christian Georg Schmorl.Bilirubin is a naturally occurring substance in the body of humans and many other animals, but it is neurotoxic when its concentration in the blood is too high, a condition known as hyperbilirubinemia.