PAEA Surgery End Of Rotation (EOR) Practice Exam

What genetic condition is associated with hyperbilirubinemia?

1. Turner syndrome

2. Gilbert's syndrome

3. Cushing's syndrome

4. Marfan syndrome

The correct answer is: Gilbert's syndrome

Hyperbilirubinemia refers to an excess of bilirubin in the blood, which can lead to jaundice and other related symptoms. Gilbert's syndrome is a genetic condition characterized by mild hyperbilirubinemia due to a deficiency in the enzyme that helps process bilirubin. This condition typically does not require treatment and is often discovered incidentally during routine blood tests. In Gilbert's syndrome, the liver does not properly conjugate bilirubin because of a genetic mutation affecting the enzyme UDP-glucuronosyltransferase. This leads to an accumulation of unconjugated bilirubin in the bloodstream, resulting in the condition found in affected individuals. While the other conditions listed may have various associated symptoms, they are not primarily linked to hyperbilirubinemia. Turner syndrome is a chromosomal disorder that affects females and is characterized by short stature and ovarian dysfunction. Cushing's syndrome involves excess cortisol production and is not directly related to bilirubin metabolism. Marfan syndrome is a connective tissue disorder that affects the skeletal system, cardiovascular system, and eyes but does not involve issues with bilirubin levels. These distinctions emphasize why Gilbert's syndrome is the only genetic condition in the list that directly associates with hyperbilirubinemia.