Differential Diagnosis for Elevated Total Bilirubin in an Otherwise Healthy Patient

Single Most Likely Diagnosis

• Gilbert's Syndrome: A benign condition characterized by a mild increase in unconjugated bilirubin due to a partial deficiency of the enzyme uridine diphosphate glucuronyltransferase (UGT). It is often discovered incidentally during routine blood tests and is more common in males.

Other Likely Diagnoses

• Hemolysis: Conditions that lead to the breakdown of red blood cells can increase bilirubin levels. This could be due to various causes such as autoimmune hemolytic anemia, hereditary spherocytosis, or glucose-6-phosphate dehydrogenase (G6PD) deficiency.
• Alcohol Use: Chronic alcohol consumption can lead to an elevation in bilirubin levels due to its toxic effects on the liver, even in the absence of overt liver disease.
• Viral Hepatitis: Acute viral hepatitis (e.g., hepatitis A, B, or C) can cause an elevation in bilirubin levels due to liver inflammation.

Do Not Miss Diagnoses

• Hemoglobinopathies: Conditions like sickle cell disease or thalassemia can lead to hemolysis and elevated bilirubin. Missing these diagnoses could lead to significant morbidity and mortality if not properly managed.
• Wilson's Disease: A genetic disorder leading to copper accumulation in the liver, which can cause liver damage and elevated bilirubin. Early diagnosis is crucial to prevent long-term liver damage and neurological complications.
• Budd-Chiari Syndrome: A condition characterized by the obstruction of the hepatic veins, which can lead to liver dysfunction and elevated bilirubin. It is a medical emergency requiring prompt diagnosis and treatment.

Rare Diagnoses

• Dubin-Johnson Syndrome: A rare genetic disorder causing chronic jaundice due to an inability to secrete conjugated bilirubin into the bile.
• Rotor Syndrome: Similar to Dubin-Johnson syndrome, it is a benign condition that causes an increase in conjugated bilirubin without liver injury.
• Crigler-Najjar Syndrome: A rare congenital disorder affecting the enzyme responsible for bilirubin conjugation, leading to very high levels of unconjugated bilirubin.
• Porphyrias: A group of disorders that can lead to elevated bilirubin levels among other symptoms, due to defects in heme synthesis.