Differential Diagnosis for a 46-year-old Male with Ferritin of 816

Single Most Likely Diagnosis

• Hemochromatosis: This genetic disorder leads to excessive iron absorption, resulting in elevated ferritin levels. It's a common cause of markedly elevated ferritin in adults, especially in those of Northern European descent.

Other Likely Diagnoses

• Chronic Hepatitis or Liver Cirrhosis: Liver diseases can lead to increased ferritin levels due to inflammation and liver cell damage.
• Non-Alcoholic Fatty Liver Disease (NAFLD): This condition, often associated with obesity and metabolic syndrome, can cause elevated ferritin levels.
• Chronic Inflammation or Infection: Conditions like rheumatoid arthritis, chronic infections, or other inflammatory diseases can increase ferritin as an acute-phase reactant.

Do Not Miss Diagnoses

• Hemophagocytic Lymphohistiocytosis (HLH): A rare but life-threatening condition characterized by excessive immune activation, which can present with very high ferritin levels. Missing this diagnosis can be fatal.
• Malignancy: Certain cancers, such as lymphoma or leukemia, can cause elevated ferritin levels. Although less common, the potential severity of these conditions warrants consideration.

Rare Diagnoses

• Porphyria Cutanea Tarda: A disorder of porphyrin metabolism that can lead to increased iron absorption and elevated ferritin levels.
• Aceruloplasminemia: A rare genetic disorder affecting iron metabolism, leading to elevated ferritin and potentially severe neurological and retinal damage.
• Hyperferritinemia Cataract Syndrome: A rare genetic condition characterized by early-onset cataracts and elevated ferritin levels without significant iron overload.