Gilbert Syndrome, Symptoms & Causes
Gilbert's syndrome is a genetic liver disease that causes high bilirubin levels. People with Gilbert's syndrome may become jaundiced. Read The article to know more.
Nivedita Dar3 Sept, 2024
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Gilbert Syndrome: A Genetic Metabolic Disorder of Liver. Gilbert syndrome is a relatively mild condition in which there are periods of elevated levels of a toxic substance called Bilirubin in the blood (hyperbilirubinemia). Bilirubin, which has an orange-yellow tint, is produced when red blood cells are broken down. This substance is removed from the body only after it undergoes a chemical reaction in the liver, which converts the toxic form of bilirubin (unconjugated bilirubin) to a nontoxic form called conjugated bilirubin.
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People with Gilbert syndrome have a buildup of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia). In affected individuals, bilirubin levels fluctuate and very rarely increase to levels that cause jaundice, which is yellowing of the skin and whites of the eyes.Read More - Radiodiagnosis
What is Bilirubin?
Bilirubin ( BR ) (from the Latin for "red bile") is a red-orange compound that occurs in the normal catabolic pathway that breaks down heme ( a very important pigment in hemoglobin ) in animals. This catabolism is a necessary process in the body's clearance of waste products that arise from the destruction of aged or abnormal red blood cells . In the first step of bilirubin synthesis, the heme molecule is stripped from the hemoglobin molecule. Heme then passes through various processes of porphyrin catabolism, which varies according to the region of the body in which the breakdown occurs. For example, the molecules excreted in the urine differ from those in the feces The production of biliverdin ( another pigment) from heme is the first major step in the catabolic pathway, after which the enzyme biliverdin reductase performs the second step, producing bilirubin from biliverdin.Read More - Pharyngeal Arches
What is the Conjugation of Bilirubin?
Bilirubin exists in two forms; unconjugated and conjugated. Unconjugated bilirubin is insoluble in water. This means it can only travel in the bloodstream if bound to albumin and it cannot be directly excreted from the body. In contrast, conjugated bilirubin is water soluble . This allows it to travel through the bloodstream without requiring transport proteins like albumin, which means that it can also be excreted out of the body. Once in the liver, glucuronic acid is added to unconjugated bilirubin by the enzyme glucuronic transferase . This forms conjugated bilirubin, which is soluble. This allows conjugated bilirubin to be excreted into the duodenum in bile.Read More - Pelvis and Perineum
What is wrong with patients of Gilbert's Syndrome?
Gilbert’s syndrome is an inherited disorder where there is hyperbilirubinemia (excess bilirubin in the bloodstream) due to a fault in the UGT1A1 gene leading to a deficiency in UDP-glucuronosyltransferase . This faulty gene results in slower conjugation of bilirubin in the liver and so it builds up in the bloodstream instead of being excreted through the biliary ducts. When well, patients are usually asymptomatic and have normal bilirubin levels. However, under physiological stressors such as illness, alcohol abuse and extreme exercise, patients can become markedly jaundiced.Gilbert Syndrome FAQs
What is jaundice?
Jaundice is a condition characterized by the yellowing of the skin and eyes due to an excess of bilirubin in the bloodstream.
Why is jaundice checked for in the eye?
Jaundice is often first noticeable in the sclera (the white part of the eye) because the sclera contains elastic tissue that binds bilirubin more readily, making the yellow discoloration more apparent.
What are prehepatic, hepatic, and post-hepatic jaundice?
Prehepatic jaundice: Caused by excessive production of bilirubin, often due to hemolysis (breakdown of red blood cells).
Hepatic jaundice: Results from liver dysfunction, where the liver cannot properly process or excrete bilirubin, often due to liver diseases like hepatitis or cirrhosis.
Post-hepatic jaundice: Occurs when there is an obstruction in the bile ducts that prevents bilirubin from being excreted, leading to its buildup in the bloodstream.
What is the role of stress in Gilbert’s syndrome?
In Gilbert’s syndrome, stressors like illness, alcohol, or intense exercise can trigger an increase in bilirubin levels, leading to episodes of jaundice, even though patients are typically asymptomatic when not under stress.
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