Differential Diagnosis for High Ferritin and Normal Rest of Iron Studies

• Single most likely diagnosis
  • Metabolic syndrome or insulin resistance: Elevated ferritin levels are often seen in patients with metabolic syndrome or insulin resistance, even in the absence of iron overload. This is due to the role of ferritin as an acute-phase reactant and its association with inflammation and oxidative stress.
• Other Likely diagnoses
  • Chronic inflammation: Conditions such as rheumatoid arthritis, chronic infections, or chronic liver disease can cause elevated ferritin levels due to inflammation.
  • Obesity: Obesity is associated with chronic inflammation and increased ferritin levels, even in the absence of iron overload.
  • Hypothyroidism: Some studies suggest a link between hypothyroidism and elevated ferritin levels, although the mechanism is not fully understood.
• Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)
  • Hemophagocytic lymphohistiocytosis (HLH): A rare but life-threatening condition characterized by excessive immune activation, which can cause very high ferritin levels.
  • Sepsis or severe infection: In some cases, severe infections can cause a significant increase in ferritin levels due to the acute-phase response.
• Rare diagnoses
  • Hyperthyroidism: Although less common, some cases of hyperthyroidism have been associated with elevated ferritin levels.
  • Porphyria cutanea tarda: A rare genetic disorder that can cause elevated ferritin levels due to iron accumulation in the liver.
  • Gaucher's disease: A rare genetic disorder that can cause elevated ferritin levels due to the accumulation of glucocerebroside in the body.