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Gilbert Syndrome

פיקובסקי ז'אנה סטודנטית שנה ב פנימית ב. Gilbert Syndrome. Most common inherited autosomal recessive cause of unconjugated hyperbilirubinemia The hyperbilirubinemia is mild - less than 6 mg/ dL

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Gilbert Syndrome

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  1. פיקובסקי ז'אנה סטודנטית שנה ב פנימית ב Gilbert Syndrome

  2. Most common inherited autosomal recessive cause of unconjugatedhyperbilirubinemia • The hyperbilirubinemia is mild - less than 6 mg/dL • Characterized by intermittent jaundice in the absence of hemolysis or underlying liver disease • Frequency - United States is 3-7% of the population • Occurs predominately in men 2-7:1 ETHIOLOGY

  3. Pathophysiology • Underactivity of the conjugating enzyme system bilirubin-uridinediphosphateglucuronyltransferase (bilirubin-UGT) • Caused by insertion of base pairs in the promotor region, that interferes with binding of TF • This enzyme is encoded by UGT1 gene on chromosome 2

  4. Symptoms • 30% asymptomatic • nonspecific symptoms: abdominal cramps, fatigue, malaise and anxiety • Mild jaundice present intermittently, serum bilirubin reaches 2 to 2.5 mg/dL

  5. Dehydration Fasting: This produces an increase in the plasma unconjugated bilirubin level. Intercurrent illness, such as a viral infection Menstrual periods Stress, such as trauma and overexertion Causes that may stimulate the disease

  6. Lab: RBC count - normal (if not hemolysis) Lactate dehydrogenase – normal (elevated in hemolysis) Liver function tests - normal with the exception of unconjugated hyperbilirubinemia Diagnosis

  7. Fasting: magnitude of rising in unconjugatedbilirubin level within 48 higher in Gilbert syndrome • Phenobarbital: Phenobarbital and other enzyme inducers of the bilirubin-UGT system will normalize plasma bilirubin in patients with Gilbert syndrome • Drug clearance: 30% of patients have impaired clearance Additional tests

  8. Medications in patients with Gilbert syndrome is unjustified in clinical practice Phenobarbital can be used Avoid known risk factors Normal life stile Treatment and Prognosis

  9. Thank you

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