A Case Report of Gilbert Syndrome Presenting With Acute Cholecystitis

Area of Science:

• Hepatology
• Clinical Genetics
• Internal Medicine

Background:

• Gilbert syndrome is a common, benign genetic disorder characterized by intermittent unconjugated hyperbilirubinemia.
• Patients with Gilbert syndrome may present with jaundice, especially during periods of stress, fasting, or illness, which can mimic other liver conditions.

Purpose of the Study:

• To present a case of acute cholecystitis in a patient with Gilbert syndrome.
• To emphasize the diagnostic challenges and importance of genetic confirmation in unexplained jaundice.
• To highlight the role of genetic testing in guiding personalized management for Gilbert syndrome.

Main Methods:

• Case report of a 38-year-old male.
• Clinical presentation including jaundice and elevated liver enzymes.
• Diagnostic workup involving liver function tests and genetic analysis.

Main Results:

• The patient was diagnosed with acute cholecystitis and Gilbert syndrome.
• Genetic testing confirmed the diagnosis of Gilbert syndrome, differentiating it from other causes of jaundice.
• Prompt diagnosis and management led to a favorable outcome.

Conclusions:

• Unexplained jaundice in the context of elevated liver enzymes warrants consideration of Gilbert syndrome.
• Genetic testing is a valuable tool for accurate diagnosis and avoiding misdiagnosis.
• Personalized management strategies are essential for patients with Gilbert syndrome presenting with concurrent conditions.