Diagnosis of Gilbert’s Syndrome is essential only to rule out other diseases like hepatitis, gallstones, and blood disorders. Gilbert’s condition (it’s not even a disease) is otherwise harmless, with only mild jaundice as a primary intermittent symptom.
Gilbert’s Syndrome was first depicted by a French physician, Augustin Nicolas Gilbert, and thus, is named after him. It affects the middle-aged population, and principally men more than women. About 5- 10 % of the general population is known to have this problem. Most patients are diagnosed accidentally, after the blood tests show an elevated bilirubin level. This is a hereditary condition affecting the liver, and often, it 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 this condition. Inheritance of both alleles of the recessive gene from each parent, leads to this disorder. 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 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 function tests help to diagnose this condition. These show an elevation of unconjugated bilirubin, with no effect on other liver enzymes. The rise in indirect bilirubin is also minimal and more after fasting. Rarely, liver biopsy, ultrasound, and genetic testing 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 and non-progressive, with no effect on life expectancy.
Disclaimer: This HealthHearty article is for informative purposes only, and should not be used as a replacement for expert medical advice.
