Gilbert's syndrome history and symptoms
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History and Symptoms
- Gilbert's syndrome produces an elevated level of unconjugated bilirubin in the bloodstream but normally this has no serious consequence. Mild jaundice may appear under conditions of exertion, stress, fasting, and infections, but the condition is otherwise usually asymptomatic.
- It has been reported that GS may contribute to an accelerated onset of neonatal jaundice.
- Some patients report experiencing unpleasant physical symptoms during episodes of high bilirubin levels. They may report meal-related fatigue, tremors, nausea, and abdominal pain, with jaundice. Because patients may be unaware of their condition but conscious of apparent jaundice, they may present these symptoms at urgent-care facilities needlessly.
Detoxification of certain drugs:
- The enzymes that are defective in GS (UGT1A1) are also responsible for some of the liver's ability to detoxify certain drugs. For example, Gilbert's syndrome is associated with severe diarrhea and neutropenia in patients who are treated with irinotecan, which is metabolized by UGT1A1.
- While paracetamol (acetaminophen) is not metabolized by UGT1A1, it is metabolized by one of the other enzymes also deficient in some people with GS. A subset of people with GS may have an increased risk of paracetamol toxicity.
Debated signs and symptoms:
- Reduced risk of ischemic heart disease: One research group in the Czech Republic has found a reduced incidence of atherosclerotic disease in subjects with GS. This is supposed to be due to bilirubin IXα being recognised as a potent antioxidant .
- Diffuse symptoms: Many people report diffuse symptoms related to GS - feeling tired all the time (fatigue), difficulty maintaining concentration, loss of appetite, abdominal pain, loss of weight and others - , but no clear adverse symptoms related to elevated levels of unconjugated bilirubin have been found in adults during scientific studies.. This has led some to dispute whether GS should classify as a disease.
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