Differential Diagnosis for Elevated Liver Enzymes in an Otherwise Normal Patient

Single Most Likely Diagnosis

• Fatty Liver Disease: This is often the most common cause of elevated liver enzymes in an otherwise healthy individual, especially if they are overweight or have a history of excessive alcohol consumption. The condition is characterized by the accumulation of fat in liver cells, which can lead to inflammation and damage.

Other Likely Diagnoses

• Viral Hepatitis: Hepatitis A, B, and C can cause liver enzyme elevations. While hepatitis A is usually self-limiting, hepatitis B and C can lead to chronic infection and liver damage.
• Alcoholic Liver Disease: Even if the patient does not appear to be a heavy drinker, occasional binge drinking or underreported alcohol consumption can lead to liver enzyme elevations.
• Medication-Induced Liver Injury: Many medications, including over-the-counter drugs like acetaminophen, can cause liver damage and elevate liver enzymes.
• Autoimmune Hepatitis: A condition where the body's immune system attacks liver cells, leading to inflammation and liver damage.

Do Not Miss Diagnoses

• Wilson's Disease: A rare genetic disorder that leads to copper accumulation in the liver, causing damage. It's crucial to diagnose early to prevent severe liver damage and neurological symptoms.
• Hemochromatosis: A genetic disorder causing excessive iron absorption, leading to iron overload and potential liver damage.
• Alpha-1 Antitrypsin Deficiency: A genetic disorder that can cause liver disease and lung disease. Early diagnosis is critical for managing the condition and preventing complications.
• Budd-Chiari Syndrome: A rare condition caused by blood clots in the hepatic veins, which can lead to liver failure if not promptly treated.

Rare Diagnoses

• Primary Biliary Cholangitis (PBC): A chronic liver disease characterized by progressive destruction of the bile ducts within the liver, leading to liver damage.
• Primary Sclerosing Cholangitis (PSC): A disease that leads to scarring and narrowing of the bile ducts, causing liver damage and potentially leading to liver failure.
• Glycogen Storage Diseases: A group of rare genetic disorders that affect the body's ability to store glycogen, leading to liver enlargement and elevated liver enzymes.
• Cystic Fibrosis: While primarily known as a lung disease, cystic fibrosis can also affect the liver, causing focal biliary cirrhosis and multilobular cirrhosis.