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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 ]
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]
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 ]
Jaundice may be noticeable in the sclera of the eyes at levels of about 2 to 3 mg/dl (34 to 51 μmol/L), [27] and in the skin at higher levels. [note 1] Jaundice is classified, depending upon whether the bilirubin is free or conjugated to glucuronic acid, into conjugated jaundice or unconjugated jaundice. [citation needed]
Treatment of the condition is specific to the cause of hemolysis, but intense phototherapy and exchange transfusion can be used to help the patient excrete accumulated bilirubin. [11] Complications related to hemolytic jaundice include hyperbilirubinemia and chronic bilirubin encephalopathy, which may be deadly without proper treatment. [12] [13]
Treatment of acute episodes may include medications for infection, stopping the offending medication, or blood transfusions. [3] Jaundice in newborns may be treated with bili lights. [2] It is recommended that people be tested for G6PDD before certain medications, such as primaquine, are taken. [2] About 400 million people have the condition ...
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Mild jaundice may appear under conditions of exertion, stress, fasting, and infections, but the condition is otherwise usually asymptomatic. [7] [8] Severe cases are seen by yellowing of the skin tone and yellowing of the conjunctiva in the eye. [9] Gilbert syndrome has been reported to contribute to an accelerated onset of neonatal jaundice.