What is Gilbert Syndrome?
Gilbert Syndrome is a mild genetic disorder that disrupts the liver’s normal ability to process a compound called bilirubin. Bilirubin is a yellowish substance that the body creates as a natural byproduct when it breaks down old red blood cells. Typically, a specific enzyme in the liver, known as uridine diphosphate-glucuronosyltransferase (UGT), converts bilirubin into a water-soluble form that can be easily removed from the body through bile.
In people with Gilbert Syndrome, the activity of this UGT enzyme is moderately reduced. This lower efficiency means that bilirubin is processed more slowly, which can lead to a slight buildup of its unprocessed form in the bloodstream. The sole consequence of this buildup is the potential for mild, intermittent jaundice, a harmless yellow discoloration of the skin and the whites of the eyes.
Causes:- Inherited Genetic Variation: The root of the syndrome is a common, inherited variation within the UGT1A1 gene. This particular segment of DNA holds the essential blueprint for the liver's production of the bilirubin-processing enzyme.
- Reduced Enzyme Production: This genetic alteration leads to a significantly lower output of the enzyme, uridine diphosphate-glucuronosyltransferase (UGT). The liver still creates a perfectly functional enzyme, but it produces only about 30% of the normal amount.
- Inefficient Bilirubin Clearance: With a diminished supply of the UGT enzyme, the liver's capacity to process bilirubin is permanently slowed down. This inefficiency allows the unprocessed form of bilirubin to accumulate in the bloodstream to levels that are higher than normal.
- Inheritance from Both Parents: The fundamental risk factor is inheriting the specific gene variant for Gilbert Syndrome from both the mother and the father. Because this trait is typically recessive, receiving the variant from only one parent generally makes a person a carrier without having the condition themselves.
- Male Sex: The syndrome is diagnosed with significantly greater frequency in males compared to females. While the precise reasons for this disparity are not fully understood, it is a consistent clinical observation.
- Discovery During Adolescence: The condition is most often first identified during the teenage years or early adulthood. The physical stressors common during this period, such as illness, fasting, or demanding exercise, can temporarily raise bilirubin levels, leading to a noticeable episode of jaundice that prompts a medical evaluation.
