Gilbert syndrome is a common genetic liver disorder affecting the metabolism of bilirubin, a substance formed from the breakdown of red blood cells. Typically benign, it manifests as intermittent jaundice due to elevated bilirubin levels in the blood
Normal Physiology:
When red blood cells break down, they produce bilirubin, which is initially in a form called unconjugated bilirubin. This form is not water-soluble, meaning it can't be easily removed from the body. The liver normally converts unconjugated bilirubin into a water-soluble form called conjugated bilirubin through a process called glucuronidation. This process is carried out by an enzyme called UGT1A1.
In people with Gilbert's syndrome:
There is a genetic mutation in the UGT1A1 gene. This mutation causes the enzyme to be less effective or produced in smaller amounts. Because the enzyme doesn't work well, the liver can't convert unconjugated bilirubin into conjugated bilirubin efficiently. The unconjugated bilirubin builds up in the blood because it isn't being converted and removed properly. This buildup can cause mild jaundice (a yellowish tint to the skin and eyes), especially during times of stress, illness, or fasting. It simply means the liver processes bilirubin a bit more slowly due to a genetic variation.
How to diagnose?
To confirm the diagnosis of Gilbert's syndrome, three consecutive blood tests showing elevated bilirubin levels in a patient who does not exhibit any symptoms of jaundice can be used for diagnosis.
Triggers:
1. Fasting or Skipping Meals: Prolonged periods without food can trigger jaundice episodes.
2. Dehydration: Inadequate fluid intake can exacerbate symptoms.
3. Illness or Infection: Any acute illness or infection can lead to elevated bilirubin levels.
4. Stress: Emotional or physical stressors can contribute to jaundice episodes in some individuals.
Medications to Avoid ( because they get metabolized through glucuronidation):
- Acetaminophen/ PCM
- Ibuprofen
- Lorazepam, Lamotrigine - Anti convulsant
- Some Antibiotics: Such as erythromycin and rifampin.
- Antiviral Medications: Certain antiviral drugs can affect bilirubin levels.
- Chemotherapy Drugs: Particularly those metabolized by the liver.