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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 ]
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.
People with GS predominantly have elevated unconjugated bilirubin, while conjugated bilirubin is usually within the normal range or is less than 20% of the total. Levels of bilirubin in GS patients are reported to be from 20 μM to 90 μM (1.2 to 5.3 mg/dl) [ 38 ] compared to the normal amount of < 20 μM.
Extremely high levels of unconjugated bilirubin in plasma enables bilirubin to cross the blood-brain-barrier to reach the brain and central nervous system to impart damage. This is termed kernicterus, or bilirubin encephalopathy. Kernicterus is rare in adults but is prevalent in newborns with underdeveloped blood-brain barriers and lower ...
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]
Crigler–Najjar syndrome is a rare inherited disorder affecting the metabolism of bilirubin, a chemical formed from the breakdown of the heme in red blood cells. The disorder results in a form of nonhemolytic jaundice, which results in high levels of unconjugated bilirubin and often leads to brain damage in infants.
Dubin–Johnson syndrome is a rare, autosomal recessive, benign disorder that causes an isolated increase of conjugated bilirubin in the serum. Classically, the condition causes a black liver due to the deposition of a pigment similar to melanin. [2]
Elevated conjugated bilirubin; Cause. Congenital. In fetal and neonatal life the ductal plates are remodeled. The malformations can be atretic or fibrocystic. Atretic ...