Differential Diagnosis
The patient's laboratory results and clinical presentation suggest a complex diagnosis. Here's a breakdown of the differential diagnosis:
- Single most likely diagnosis
- Anemia of chronic disease (ACD): The patient's low TIBC, high iron saturation, and low ferritin levels are consistent with ACD, which is commonly seen in patients with chronic inflammatory conditions such as mixed connective tissue disease or dermatomyositis.
- Other Likely diagnoses
- Iron overload: Although the patient's ferritin level is low, the high iron saturation and elevated iron level suggest possible iron overload, which can be seen in conditions such as hemochromatosis or transfusional iron overload.
- Inflammatory anemia: The patient's mixed connective tissue disease or dermatomyositis can cause anemia due to chronic inflammation, which can lead to elevated hepcidin levels, decreased iron absorption, and subsequent anemia.
- Do Not Miss
- Hemophagocytic lymphohistiocytosis (HLH): This rare condition can present with anemia, elevated ferritin levels, and systemic inflammation, which can be seen in patients with autoimmune disorders. Although the patient's ferritin level is low, HLH should be considered due to its high mortality rate if left untreated.
- Sideroblastic anemia: This condition can cause anemia, elevated iron levels, and ringed sideroblasts in the bone marrow. Although it is less likely, it should be considered due to its potential to cause significant morbidity if left untreated.
- Rare diagnoses
- Aceruloplasminemia: This rare genetic disorder can cause iron overload, anemia, and neurological symptoms. Although it is unlikely, it should be considered in patients with unexplained iron overload and anemia.
- Atransferrinemia: This rare condition can cause iron overload, anemia, and elevated iron saturation due to the lack of transferrin, a protein responsible for transporting iron in the blood.