Gilbert’s syndrome is a congenital condition in which there is a higher-than-normal concentration of bilirubin in the blood.
Bilirubin is created by the breakdown of hemoglobin and myoglobin. Sometimes, people may have yellowing of the skin and eyes, which is known as jaundice. Because this bilirubin is unconjugated, it cannot cross the blood-brain barrier and is otherwise harmless.
Usually, when jaundice is diagnosed along with Gilbert’s syndrome, there should not be any concern until it is associated with any more unusual symptoms.
Diagnosing Gilbert’s syndrome
Gilbert's syndrome can be diagnosed using blood tests to measure bilirubin levels in the blood and liver function tests. To rule out the most common liver disorders, the healthcare provider will recommend blood and liver function tests.
The liver enzymes are elevated along with the increased count of blood cells, and elevated unconjugated bilirubin is an indicator of Gilbert’s syndrome.
Ultrasonography of the liver may help rule out other pathological conditions in the liver.
A genetic test for the UGT1A1 gene is next-generation sequencing that is appropriate for individuals with clinical signs and symptoms or a family history of Gilbert’s syndrome.
What is Gilbert’s syndrome?
Gilbert’s syndrome is a genetic condition in which there is excessive bilirubin in the bloodstream due to a faulty gene. Bilirubin is a byproduct of the breakdown of red blood cells.
- The heme from the red blood cells is broken down into iron and biliverdin, where the iron is recycled back for further use. Biliverdin is then reduced to form unconjugated bilirubin.
- Once in the liver, glucuronic acid is added to bilirubin in the presence of the enzyme glucronyl transferase. This forms conjugated bilirubin that is soluble and will reach the intestine through the bile ducts where it can be further excreted in feces and urine.
- In Gilbert’s syndrome, there is a deficiency of glucoronyl transferase in the blood that causes unconjugated hyperbilirubinemia, leading to jaundice.
Genetic tests are performed to check the faulty genes that cause Gilbert's syndrome.
What are the symptoms of Gilbert’s syndrome?
The most common sign of Gilbert’s syndrome is a yellowish discoloration of the skin and whites of the eyes, which are due to the elevated levels of bilirubin in the blood.
Reasons for increased bilirubin in people with Gilbert’s syndrome include:
- Illness that is caused by the cold or flu
- Eating a very low-calorie diet
- Excessive dehydration
- During menstruation (women)
- Stress
- Strenuous exercise
Some of the symptoms include:
- Dark-colored urine or clay-colored stools
- Dizziness
- Difficulty focusing on particular things
- Fatigue
- Gastrointestinal problems such as nausea, abdominal pain, and diarrhea
- Flu-like symptoms such as fever and chills
- Loss of appetite
What is the treatment of Gilbert’s syndrome?
Gilbert's syndrome does not require any treatment. Bilirubin levels may fluctuate over a period. Some lifestyle activities may increase bilirubin levels and cause Gilbert’s syndrome. Making changes in these lifestyle activities may help keep the bilirubin levels under control.
Make sure your healthcare provider is aware of your condition. Because Gilbert’s syndrome affects the process of medication given by your healthcare provider differently, every healthcare provider you visit must be aware of your condition.
Eat a healthy diet and try to avoid low-calorie diets, which can be one of the causes of the symptoms of Gilbert's syndrome. Try to avoid fasting and skipping meals.
Try to manage your stress. Mild exercise, meditation, and listening to music may help you relieve stress.
https://www.mayoclinic.org/diseases-conditions/gilberts-syndrome/diagnosis-treatment/drc-20372816
https://my.clevelandclinic.org/health/diseases/17661-gilberts-syndrome
https://rarediseases.org/rare-diseases/gilbert-syndrome/
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