What are the differential diagnoses for severely elevated ferritin levels (hyperferritinemia)?

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Differential Diagnosis for Ferritin Over 10,000

Single Most Likely Diagnosis

  • Hemochromatosis: This is a genetic disorder characterized by excessive iron accumulation in the body, leading to elevated ferritin levels. It is the most common cause of markedly elevated ferritin levels, especially in individuals of Northern European descent.

Other Likely Diagnoses

  • Hemolytic Anemia: Conditions like sickle cell disease, thalassemia, or autoimmune hemolytic anemia can lead to increased ferritin levels due to chronic hemolysis and subsequent iron overload.
  • Chronic Inflammation: Prolonged inflammation, as seen in conditions like rheumatoid arthritis or chronic infections, can cause an increase in ferritin levels as an acute-phase reactant.
  • Cirrhosis: Liver cirrhosis, especially due to hepatitis C or alcohol use, can lead to elevated ferritin levels due to liver dysfunction and iron accumulation.

Do Not Miss Diagnoses

  • Hemophagocytic Lymphohistiocytosis (HLH): A rare but life-threatening condition characterized by excessive immune activation, leading to elevated ferritin levels (>10,000 ng/mL). Missing this diagnosis can be fatal.
  • Malignancy: Certain cancers, such as lymphoma or leukemia, can cause elevated ferritin levels. Although less common, it is crucial to rule out malignancy due to its significant implications.
  • Sepsis: Severe infections can lead to elevated ferritin levels as part of the acute-phase response. While not the primary diagnosis, sepsis can be a life-threatening condition that requires prompt recognition.

Rare Diagnoses

  • Porphyria Cutanea Tarda: A rare genetic disorder that can cause elevated ferritin levels due to iron accumulation in the liver.
  • Aceruloplasminemia: A rare genetic disorder characterized by iron accumulation in the brain and other organs, leading to elevated ferritin levels.
  • Hyperferritinemia Cataract Syndrome: A rare genetic disorder that causes elevated ferritin levels and cataract formation due to a mutation in the ferritin light chain gene.

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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