Gilbert Syndrome

OVERVIEW

Gilbert syndrome is a hereditary liver condition in which the liver does not properly process bilirubin. It is characterized by a pure unconjugated hyperbilirubinemia.

WHAT CAUSES IT?

This is a genetic condition that is caused by autosomal dominant inheritance pattern. Episodes of jaundice are precipitated by periods of stress. Different precipitants of jaundice can include:

  • Infection
  • Alcohol consumption
  • Pregnancy
  • Starvation
WHAT MAKES US SUSPECT IT?

Initial Presentation

History Of Present Illness

  • Source of stress may precede the presentation of jaundice.
WHAT ARE IMPORTANT FEATURES OF THE PHYSICAL EXAM?

Dermatological exam:

  • Signs of jaundice: scleral icterus
CLINICAL WORKUP: SERUM STUDIES

Complete Blood Count:

  • Normal hemoglobin/HCT: the jaundice in this condition is NOT caused by hemolysis

Complete Blood Panel (CMP)

  • Normal ALT/AST/ALP: all these liver enzymes will be normal because this condition is not characterized by damage to the liver.
  • Elevated unconjugated hyperbilirubinemia
  • Normal conjugated bilirubin 
WHAT IS OUR THRESHOLD FOR DIAGNOSIS?

The following features are “core” to establishing a diagnosis for this condition:

  • Unconjugated hyperbilirubinemia 
  • Normal liver enzymes
  • No signs of hemolysis 
  • No sigs/symptoms of hepatobiliary disease 
ARCHIVE OF STANDARDIZED EXAM QUESTIONS 

This archive compiles standardized exam questions that relate to this topic.

 

Page Updated: 01.29.2017