Gilbert’s Syndrome GS; Causes, Symptoms, Diagnosis & Treatment

What is Gilbert syndrome and how does it occur?

Gilbert's syndrome
Gilbert’s syndrome

Gilbert syndrome is a liver disease, which leads to a partially impaired ability of the liver to process bilirubin. This causes the chemical to accumulate in the blood, causing mild jaundice. It occurs due to a mutation of a gene called UGT1A1, which is responsible for the formation and function of a key enzyme that helps process bilirubin in the liver.

Such mutation is inherited in families and can pass from grandfather to grandson rather than from father to son. This mode of inheritance is called autosomal recessive. The condition is very common, affecting up to 3% of all humans and about 5% of all people living in the US. What is particularly interesting in this condition is that despite the mutation, other enzymes of the same family are usually active to a certain degree that is enough for the body under normal condition, and therefore, most people with the condition may not experience any jaundice for years until a “stressor” occurs.

Stressors are diseases or even some normal conditions that stresses the liver through increasing the amount of bilirubin that needs processing. They include prolonged fasting, menstruation in females, some medications and infection or fever.

Written by Martin Davis