Differential Diagnosis for Borderline Enlarged Liver and Diffuse Fatty Infiltration

Single Most Likely Diagnosis

• Non-Alcoholic Fatty Liver Disease (NAFLD): This is the most common cause of liver disease in Western countries, characterized by excessive fat accumulation in liver cells. The borderline enlarged liver and diffuse fatty infiltration, along with mildly elevated ALT (52), are consistent with NAFLD, especially in the absence of significant alcohol use.

Other Likely Diagnoses

• Alcoholic Liver Disease: Although less likely if the patient does not have a significant history of alcohol use, it's still a consideration, especially if the patient underreports alcohol consumption. The liver enlargement and fatty infiltration could be early signs.
• Hepatitis C: Chronic hepatitis C can lead to liver enlargement and elevated liver enzymes. While the ALT level is not markedly high, hepatitis C can cause fluctuating liver enzyme levels.
• Insulin Resistance and Metabolic Syndrome: Often associated with NAFLD, these conditions can independently contribute to liver enzyme elevation and fatty liver due to the underlying metabolic disturbances.

Do Not Miss Diagnoses

• Wilson's Disease: A genetic disorder leading to copper accumulation in the liver, which can cause liver enlargement, elevated liver enzymes, and potentially severe liver damage if not treated. Although rare, missing this diagnosis could be catastrophic.
• Hemochromatosis: A condition characterized by excessive iron storage in the body, leading to liver damage. Early detection is crucial to prevent long-term complications.
• Alpha-1 Antitrypsin Deficiency: A genetic disorder that may cause liver disease and lung disease. It's essential to consider this in the differential diagnosis due to its potential for significant morbidity if left untreated.

Rare Diagnoses

• Glycogen Storage Diseases: A group of genetic disorders that result in the accumulation of abnormal amounts or types of glycogen in tissues, including the liver, leading to hepatomegaly and potentially elevated liver enzymes.
• Weber-Christian Disease: A rare inflammatory disease of the fatty tissues under the skin and in other organs, including the liver, which could potentially cause liver enlargement and fatty infiltration.
• Abetalipoproteinemia: A very rare inherited disorder affecting fat absorption and leading to accumulation of lipids in the liver, among other symptoms.