Gilbert disease
Gilbert syndrome, often referred to simply as Gilbert's syndrome, is a mild liver disorder characterized by an elevated level of bilirubin in the bloodstream. This condition is typically harmless and often goes undiagnosed due to its generally asymptomatic nature. Individuals with Gilbert's syndrome have a reduced ability to process bilirubin, a yellowish substance produced by the breakdown of red blood cells. While the condition is inherited and affects approximately 3% to 12% of the population, many people with Gilbert's syndrome may never realize they have it.
One of the hallmark features of Gilbert's syndrome is jaundice, which is a yellowing of the skin and the whites of the eyes that occurs when bilirubin accumulates in the blood. However, jaundice associated with Gilbert's syndrome is usually mild and may only be noticeable during periods of exertion, stress, fasting, or illness. Besides jaundice, Gilbert's syndrome rarely causes any other symptoms and does not lead to serious health problems. In fact, it's often discovered incidentally during routine blood tests that reveal elevated bilirubin levels.
Gilbert's syndrome is caused by a genetic mutation in the UGT1A1 gene, which impairs the body's ability to convert bilirubin into a form that can easily be excreted through bile. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the syndrome. People with only one copy of the mutation are carriers and do not show symptoms of the condition.
Management of Gilbert's syndrome typically focuses on monitoring and lifestyle adjustments to minimize potential triggers of jaundice flare-ups. Since the condition is benign and does not damage the liver, treatment is usually unnecessary. Health care providers may advise patients to maintain a healthy diet, avoid fasting or skipping meals, reduce stress, and avoid certain medications that could potentially affect bilirubin levels.
Because Gilbert's syndrome is a lifelong condition, awareness and understanding of the condition can help individuals manage it effectively. Recognizing the triggers that can exacerbate symptoms and knowing when to seek medical advice are key components of living with Gilbert's syndrome. Despite its presence, individuals with Gilbert's syndrome can lead normal, healthy lives without any significant complications related to the condition.
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