Differential Diagnosis

The patient presents with high ferritin, normal transferrin saturation (TSAT), normal reticulocyte count, and high creatinine. Here's a categorized differential diagnosis:

• Single most likely diagnosis

  • Chronic Kidney Disease (CKD): High creatinine indicates impaired kidney function. Elevated ferritin can be seen in CKD due to inflammation and decreased erythropoietin production, leading to a relative increase in ferritin. Normal TSAT and reticulocyte count support this diagnosis, as they do not indicate iron deficiency anemia or increased red blood cell production.

• Other Likely diagnoses

  • Inflammatory Conditions: Conditions like rheumatoid arthritis, lupus, or chronic infections can cause elevated ferritin due to inflammation. Normal TSAT and reticulocyte count are consistent with an inflammatory cause rather than iron overload or deficiency.
  • Obesity or Metabolic Syndrome: These conditions can lead to elevated ferritin due to chronic inflammation and insulin resistance. The absence of other signs of iron overload or deficiency supports this possibility.

• Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)

  • Hemophagocytic Lymphohistiocytosis (HLH): Although rare, HLH is a life-threatening condition that can present with high ferritin. It's crucial to consider HLH, especially if there are other symptoms like fever, splenomegaly, or cytopenias.
  • Malignancy: Certain cancers, such as lymphoma or leukemia, can cause elevated ferritin. A thorough evaluation, including imaging and potentially a bone marrow biopsy, may be necessary to rule out malignancy.

• Rare diagnoses

  • Hyperferritinemia Cataract Syndrome: A rare genetic disorder characterized by elevated ferritin and early-onset cataracts. This diagnosis would be considered if there's a family history and the presence of cataracts.
  • Aceruloplasminemia: A rare genetic disorder leading to iron accumulation in the brain and other organs, presenting with elevated ferritin and neurological symptoms. This diagnosis would require specific testing, including genetic analysis and brain imaging.