Gilbert’s syndrome – symptoms, diagnosis and lifestyle modifications

Gilbert’s syndrome is an inherited autosomal recessive genetic disorder of impaired liver function that result in elevated levels of bilirubin.

Synonym

  • Familial non – hemolytic jaundice
  • Unconjugated hyperbilirubinemia
  • Constitutional hepatic dysfunction
  • Meulengracht’s disease

History

Gilbert’s syndrome was first identified by Nicholas Augustine Gilbert, a French doctor in the year 1900. It occurs as chronic jaundice without any symptoms (asymptomatic) of a major liver disease. It occurs due to mutation in the UDP – glucuronosyltransferase gene coded by enzyme UGT1A1, which codes for conjugation of bilirubin.

Related disorder

  • Crigler-Najjar syndrome
  • Rotor syndrome
  • Dubin – Johnson syndrome

Bilirubin 

Bilirubin is present in the blood in trace amounts. Bilirubin is a byproduct in the breakdown of hemoglobin in the age over RBCs. It is mainly excreted in the stools. An abnormality in the process can elevate bilirubin levels. Bilirubin levels may increase due to:

  • Dehydration
  • Fasting
  • Infection
  • Strain
  • Stress
  • Strenuous exercise
  • Menstruation
  • Lack of sleep
  • Over exertion

Symptoms

  • Abdominal pain
  • Dizziness
  • Loss of appetite
  • Irritable bowel syndrome
  • Fatigue
  • Yellowish discoloration of skin
  • Kernicterus
  • Straw colored urine
  • Nausea

Diagnosis

  • Estimating serum bilirubin levels

If all your other test that estimates liver function is normal and only the test that estimate serum bilirubin is abnormal we can conclude the presence of Gilbert’s syndrome.

  • In certain cases, genetic testing to confirm Gilbert’s syndrome is done.

Complications

Gilbert’s syndrome can lead to increased blood levels of certain drugs, due to the low serum levels of the enzyme that process bilirubin. Such drugs are:

  • Irinotecan and nilotinib – antineoplastic agent
  • Indinavir – anti retroviral agent
  • Statins and gemfibrozil – cholesterol lowering agent
  • Acetaminophen
  • Certain monoclonal antibodies

These drugs can cause diarrhea when administered in people with Gilbert’s syndrome.

Treatment

This is a mild disorder and usually does not require any treatment. Certain medications like phenobarbital can be used to treat jaundice and to lower serum bilirubin level.

Lifestyle modifications

  • Get a good sleep
  • Limit alcohol consumption
  • Manage and relieve stress
  • Don’t skip meals

Do not take more than the recommended amount of acetaminophen.

Jose J Kochuparambil

I love the quote -' be the change that you wanna see in others'

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