What is the diagnosis for a patient with severe iron deficiency (Iron < 10), low transferrin (131 mg/dL), elevated Total Iron-Binding Capacity (TIBC) (183), severely decreased percent iron saturation (< 5%), and elevated ferritin (301 ng/mL)?

Differential Diagnosis for Iron Deficiency and Elevated Ferritin

• Single most likely diagnosis:
  • Anemia of chronic disease (ACD): The patient has low iron levels (<10) and low percent iron saturation (<5), but elevated ferritin (301) and low TIBC (183) are more indicative of anemia of chronic disease rather than iron deficiency anemia. Ferritin is an acute-phase reactant that increases in response to inflammation, which is consistent with ACD.
• Other Likely diagnoses:
  • Iron deficiency anemia with inflammation: Although the ferritin level is elevated, which is not typical for iron deficiency anemia, it's possible that the patient has both iron deficiency and an inflammatory condition. The low iron and percent iron saturation support this diagnosis, but the elevated ferritin and low TIBC suggest inflammation.
  • Thalassemia minor: This condition can cause microcytic anemia with low iron and elevated ferritin levels due to increased iron absorption. However, transferrin saturation and TIBC would typically be low or normal.
• Do Not Miss diagnoses:
  • Hemochromatosis: Although the patient's iron and percent iron saturation are low, which is not typical for hemochromatosis, it's essential to consider this diagnosis due to the potential for severe complications if left untreated. However, the low TIBC and elevated ferritin are not consistent with hemochromatosis.
  • Sideroblastic anemia: This rare condition can cause microcytic anemia with elevated ferritin levels due to increased iron storage. However, the diagnosis would require further testing, such as bone marrow biopsy.
• Rare diagnoses:
  • Porphyria cutanea tarda: This rare condition can cause elevated ferritin levels due to increased iron absorption. However, it would typically be associated with other symptoms such as skin blistering and fragility.
  • Hyperferritinemia-cataract syndrome: This rare genetic disorder causes elevated ferritin levels due to a mutation in the ferritin gene. However, it would typically be associated with cataract formation and other systemic symptoms.