Gilbert syndrome

Overview

Gilbert syndrome, pronounced as "zheel-BAYR," is a common, benign liver disorder characterized by impaired bilirubin processing. Bilirubin results from the breakdown of red blood cells and is typically metabolized in the liver. However, individuals with Gilbert syndrome experience a mild deficiency in the enzyme responsible for this process, leading to elevated levels of unconjugated bilirubin in the blood.

Types of Gilbert syndrome

1. Type 1: Typical Gilbert Syndrome - Characterized by intermittent episodes of jaundice and elevated bilirubin levels.

2. Type 2: Mild Gilbert Syndrome - Often asymptomatic but can present with minor fluctuations in bilirubin levels.v

Causes of Gilbert syndrome

• Genetic Mutation: Inheritance of a mutated UGT1A1 gene from one or both parents.
• Enzyme Deficiency: Reduced activity of the enzyme UDP-glucuronosyltransferase 1A1 (UGT1A1), impairing bilirubin conjugation.

Risk Factors of Gilbert syndrome

• Family History: Presence of Gilbert syndrome in family members.
• Gender: More common in males.
• Age: Typically manifests during adolescence or early adulthood.

Symptoms of Gilbert syndrome

Preventions of Gilbert syndrome

Although Gilbert syndrome cannot be prevented due to its genetic nature, managing triggers such as fasting and stress may help reduce symptoms.

Diagnosis of Gilbert syndrome

• Clinical Evaluation: Based on symptoms and family history.
• Blood Tests: Elevated unconjugated bilirubin levels.
• Genetic Testing: Confirms UGT1A1 gene mutations.

Treatment for Gilbert syndrome

1. Lifestyle Modifications: Avoiding fasting and managing stress.

2. Medical Treatment: Phenobarbital may be prescribed in severe cases to enhance bilirubin metabolism.

When to seek medical attention ?

Consult a healthcare provider if experiencing persistent jaundice or unusual symptoms to confirm a diagnosis and discuss management options.