Differential Diagnosis for Elevated Ferritin (>1000)

Elevated ferritin levels can indicate a variety of conditions, ranging from benign to life-threatening. The differential diagnosis can be categorized as follows:

• Single Most Likely Diagnosis
  • Hemochromatosis: This is a genetic disorder characterized by excessive iron accumulation in the body, leading to elevated ferritin levels. It's a common cause of significantly elevated ferritin, especially in individuals of Northern European descent.
• Other Likely Diagnoses
  • Hemolytic Anemia: Conditions that lead to the breakdown of red blood cells can increase ferritin levels due to the release of iron from the lysed cells.
  • Chronic Inflammation: Conditions like rheumatoid arthritis can cause an increase in ferritin as part of the acute phase response.
  • Obesity and Metabolic Syndrome: These conditions are associated with chronic inflammation and can lead to elevated ferritin levels.
  • Liver Disease: Certain liver conditions, such as non-alcoholic fatty liver disease (NAFLD) and alcoholic liver disease, can cause elevated ferritin.
• Do Not Miss Diagnoses
  • Sepsis: Although less common, sepsis can cause a significant elevation in ferritin levels as part of the systemic inflammatory response.
  • Malignancy: Certain cancers, such as hepatocellular carcinoma and lymphomas, can lead to elevated ferritin levels.
  • Acute Hemorrhage: Significant blood loss can lead to elevated ferritin due to the release of iron from damaged tissues.
• Rare Diagnoses
  • Hyperthyroidism: Rarely, hyperthyroidism can cause elevated ferritin levels, possibly due to increased metabolism and turnover of iron-containing proteins.
  • Porphyria Cutanea Tarda: A rare genetic disorder that affects the production of heme, leading to iron accumulation and elevated ferritin levels.
  • African Iron Overload: A condition similar to hemochromatosis but not necessarily genetic, found in individuals of African descent, often related to dietary factors.

Each of these conditions has a different set of clinical features and diagnostic criteria. A thorough medical history, physical examination, and additional diagnostic tests are necessary to determine the underlying cause of elevated ferritin levels.