Gilberts Syndrome

Gilbert’s Syndrome

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Gilbert’s Syndrome

1. Introduction

Gilbert’s syndrome is relatively mild and common condition which is characterized by high levels of bilirubin in the blood (hyperbilirubinemia) which is a toxic substance. Bilirubin is an orange-yellow pigment which is created when red blood cells are separated or broken down (3). This substance is excreted from the body only if a chemical reaction in the liver occurs, which converts bilirubin’s toxic form which is known as unconjugated bilirubin to a nontoxic structure called conjugated bilirubin. Individuals with Gilbert’s disorder have a development of unconjugated bilirubin in blood circulation (unconjugated hyperbilirubinemia). In affected people, levels of bilirubin change and rarely elevate to a level that cause jaundice, a disorder which is accompanied by yellowing of the skin and white of the eyes (4).

1. Symptoms

The main sign of Gilbert's syndrome is that the whites of the eyes and skin turn slightly yellow (jaundice) which is a result of somewhat increased levels of bilirubin in the blood. A few conditions and circumstances that can elevate bilirubin levels, and jaundice, in individuals with Gilbert's disorder include (1 & 4):

• Illness, for example, seasonal influenza or cold.
• Pain in the abdomen
• Fasting
• Stress
• Dehydration
• Insomnia
• Irritable Bowel Syndrome
• Fatigue

1. Pathophysiology

As a result of a mutation of genes in the promoter region for an enzyme UGT1A (which is one of the catalysts called UGT glucuronosyltransferases that are vital for the metabolism of bilirubin) causes Gilbert’s syndrome (3).It is basically congenital, when both of the parents have the same abnormal gene, the offspring is more likely to be affected from the Gilbert’s Syndrome. The gene responsible is situated on chromosome no. 2.

1. Demographics

Gilbert's disorder is an extremely common inherited condition. This syndrome is present in around 1 in 20 individuals. It is found more commonly in males than in females. It is initially diagnosed in the early twenties or late teens (1).

1. Clinical Biochemistry Tests

To confirm the diagnosis of Gilbert's syndrome, a blood test can be useful. It shows somewhat increased level of bilirubin, yet with the liver tests being normal. Infrequently, different tests, for example, the biopsy of liver may be carried out to exclude liver infections if the diagnosis seems doubtful (4). Any other testing is not generally required, although confirmation of the diagnosis can be done by genetic testing.