Gilbert syndrome

Gilbert syndrome: Description, Causes and Risk Factors: Alternative Name: Familial nonhemolytic jaundice, unconjugated hyperbilirubinemia. Abbreviation: GS. Gilbert syndromeWhen functioning properly, the liver filters impurities and toxins from the body, processes proteins and carbohydrates, and breaks down fats using bile stored in the gall bladder. In a person with GS, the liver is unable to consistently process the yellowish-brown pigment in bile, called bilirubin. This leads to high levels of bilirubin in the bloodstream, which can cause the skin and eyes to turn yellow (jaundice). Despite the person's jaundiced appearance, the functioning of their liver is normal. Today, Gilbert syndrome is relatively common. It is thought to affect about one person in 20 or about 4% of the population. Some estimates are higher. It affects both males and females. The majority of the cases are attributed to a polymorphic variant (TA repeats) in the promoter of the UGT1A1 gene (UDP glucuronosyltransferase 1 family, polypeptide A1) in which 7 copies (TA) 7 exist instead of the usual (TA) 6. The (TA) 7 variant is associated with increased bilirubin levels in otherwise healthy individuals, who are at risk of developing gallstones at an early age. There are two other linked mutations which 94% of people with Gilbert's Syndrome also have. The first is called UGT1A6*2, in which UGT1A6 is operating at only 50% capacity. The second is called UGT1A7*3, which is operating at only 17% capacity. Both have unique toxins that they act on and contribute to the enzymatic dysfunction in Gilbert's Syndrome. Gilbert syndrome is found in individuals with the 7/7 genotype, which can impact on a patient's health if inherited in combination with disorders of high red cell turnover, such as sickle cell disease and thalassaemia. Individuals with an unexplained raised bilirubin (>20 mg/l in the serum) would benefit from the investigation of Gilbert's syndrome. Risk Factors: Fasting: This produces an increase in the plasma unconjugated bilirubin level.
  • Stress, such as trauma and overexertion.
  • Menstrual periods.
  • Intercurrent illness, such as a viral infection.
Symptoms: Gilbert's syndrome typically has no obvious symptoms, other than yellowing of the skin or eyessymptoms may include: Feeling tired all the time (fatigue). Diagnosis: In most cases doctors should beable to establish diagnosis on the basis of liverfunction tests (LFTs) and jaundice, if you have it. A genetic test exists that can detect the gene that causes Gilbert's syndrome, but this is notusually necessary for a diagnosis and is not widely available.The size of the TA dinucleotide repeats in the promoter of the UGT1A1 gene is assessed by a high resolution genotyping assay. Treatment: Gilbert syndrome is a mild disorder that typically doesn't need medical treatment. People with the disorder lead normal, healthy lives. There is no evidence to suggest that the condition is harmful or leads to more serious diseases. Medication is available that may lower bilirubin levels and reduce the jaundice if this becomes a problem. Preventive Measures: Learn to manage situations that tend to cause bilirubin levels to rise, such as emotional stress and infectious illnesses. Take measures to avoid contracting colds and the flu. Educate yourself about stress management.
  • Follow a healthier diet by eating more raw and green leafy vegetables, whole grains, fruits, nuts and seeds, beetroot, artichoke, lecithin and turmeric, all foods that are healthy for your liver function.
  • Eat small regular meals, rather than less frequent large meals. Try not to skip meals.
  • Drink eight glasses of water every day.
NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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