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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 ]
When the total serum bilirubin increases over 95th percentile for age during the first week of life for high risk babies, it is known as hyperbilirubinemia of the newborn (neonatal jaundice) and requires light therapy to reduce the amount of bilirubin in the blood. Pathological jaundice in newborns should be suspected when the serum bilirubin ...
There are additional rare causes of hereditary hyperbilirubinemia like Lucey-Driscoll syndrome and Heme Oxygenase-1 Deficiency. [1] Both Gilbert syndrome and Crigler-Najjar syndrome cause an elevated unconjugated bilirubin level due to mutations in the UGT1A1 gene, which conjugates bilirubin within liver cells so it can be excreted.
Gilbert syndrome is a phenotypic effect, mostly associated with increased blood bilirubin levels, but also sometimes characterized by mild jaundice due to increased unconjugated bilirubin, that arises from several different genotypic variants of the gene for the enzyme responsible for changing bilirubin to the conjugated form.
Jaundice, also known as icterus, is a yellowish or greenish pigmentation of the skin and sclera due to high bilirubin levels. [3] [6] Jaundice in adults is typically a sign indicating the presence of underlying diseases involving abnormal heme metabolism, liver dysfunction, or biliary-tract obstruction. [7]
Hemolytic jaundice, also known as prehepatic jaundice, is a type of jaundice arising from hemolysis or excessive destruction of red blood cells, when the byproduct bilirubin is not excreted by the hepatic cells quickly enough. [1]
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.
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. [2]