Differential Diagnosis for Elevated ALT, AST, Bilirubin with Negative Hepatitis Panel and Normal GGT

• Single Most Likely Diagnosis
  • Non-Alcoholic Fatty Liver Disease (NAFLD): This condition is characterized by elevated liver enzymes (ALT, AST) in the absence of significant alcohol consumption and often presents with normal GGT levels. The negative hepatitis panel helps rule out viral hepatitis, making NAFLD a plausible diagnosis given its high prevalence in the general population.
• Other Likely Diagnoses
  • Alcoholic Liver Disease: Despite the normal GGT, which can sometimes be used as a marker for alcohol use, alcoholic liver disease remains a possibility, especially if the patient consumes alcohol. The pattern of liver enzyme elevation (AST > ALT) can support this diagnosis, although it's not exclusive.
  • Drug-Induced Liver Injury (DILI): Various medications and supplements can cause liver enzyme elevations. A thorough medication history is essential to consider DILI as a potential cause.
  • Hemochromatosis: This genetic disorder leads to iron overload, which can cause liver damage and enzyme elevations. Early stages might not show significant GGT elevation.
• Do Not Miss Diagnoses
  • Wilson's Disease: An inherited disorder that leads to copper accumulation in the liver. It's crucial to consider, especially in younger patients, as it can present with liver enzyme elevations and bilirubin increase. Missing this diagnosis can lead to severe liver damage and neurological issues.
  • Budd-Chiari Syndrome: A condition characterized by hepatic vein thrombosis, which can cause liver enzyme elevations, bilirubin increase, and potentially life-threatening complications if not promptly addressed.
  • Acute Intermittent Porphyria: A rare genetic disorder that can cause abdominal pain, neurological symptoms, and occasionally liver function test abnormalities. It's a "do not miss" due to its potential for severe neurological manifestations and the availability of specific treatments.
• Rare Diagnoses
  • Alpha-1 Antitrypsin Deficiency: A genetic disorder that can lead to liver disease and might present with elevated liver enzymes. It's less common but should be considered, especially in patients with a family history or those presenting at a young age.
  • Autoimmune Hepatitis: Although the hepatitis panel is negative, autoimmune hepatitis can sometimes present with atypical serologies. It's a diagnosis that requires a high index of suspicion, especially in the presence of other autoimmune diseases or specific autoantibodies not included in the standard hepatitis panel.