Gilbert's Syndrome

Gilbert’s Syndrome was first depicted by French physician, Augustin Nicolas Gilbert and hence named after him. It affects middle-aged population and principally men than women. 5- 10 % of general population is known to have Gilbert’s Disease. Most patients are diagnosed accidentally after the blood tests showing an elevated bilirubin level. Gilbert’s Syndrome is a hereditary condition affecting the liver and often goes undetected in most of the individuals due to absence of any symptoms.

Genetic Pattern
The gene UDP-glucuronosyltransferase is responsible for expressing the signs of Gilbert’s. Inheritance of both alleles of the recessive gene from each parent leads to this condition. Presence of one dominant gene and the other recessive cannot cause Gilbert’s Syndrome.

Liver Malfunction as a Cause
Bilirubin is produced in blood by breakdown of red blood cells. As a rule, bilirubin is recycled by the liver and excreted out of the body. This normal processing of bilirubin is affected by lower UGT enzyme (UDP-glucuronosyltransferase) thus increasing the concentration of bilirubin in blood. Other than bilirubin processing, none of the liver functions related to metabolism and digestion are affected.

Signs and Symptoms

• Yellowish skin and eyes
• Nausea
• Fatigue
• Abdominal pain (right sided)

Laboratory Investigations
Complete blood count and liver functions tests help diagnose this condition. These show an elevation of unconjugated bilirubin with no effect on other liver enzymes. The rise in indirect bilirubin is also very minimal and more after fasting. Rarely, liver biopsy, ultrasound and genetic testing for Gilbert’s may be advised.

Prevention and Care
Mild signs of jaundice do appear and disappear from time to time. This is triggered by certain factors like fasting, skipping meals, stress, infections, dehydration and menstruation. Once these risk factors are avoided, the individual can lead a stable, healthy lifestyle without any complications.

Treatment
No treatment or minimal medications are necessary as the symptoms are periodic in nature. Individuals with Gilbert’s Syndrome exhibit lower incidence of cancers and heart disease. The syndrome is usually benign, non-progressive with no effect on life expectancy.