Differential Diagnosis
- Single most likely diagnosis
- Hemophagocytic Lymphohistiocytosis (HLH): This condition is characterized by severe anemia, high serum ferritin levels, and elevated liver enzymes, which are all present in this patient. The high LDH and bilirubin levels also support this diagnosis. HLH is a life-threatening condition that requires prompt recognition and treatment.
- Other Likely diagnoses
- Sickle Cell Disease with acute hemolysis: Although the patient's ANA is normal, the presence of severe anemia, mild hepatosplenomegaly, and elevated bilirubin could suggest a hemolytic anemia such as sickle cell disease. However, the very high ferritin level is more suggestive of HLH.
- Autoimmune Hemolytic Anemia (AIHA): The patient's anemia and elevated bilirubin could be consistent with AIHA, but the normal ANA and very high ferritin level make this diagnosis less likely.
- Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)
- Malignant Hemophagocytosis (e.g., T-cell lymphoma): This is a rare but aggressive condition that can present similarly to HLH. It is essential to rule out an underlying malignancy, especially given the patient's severe symptoms and high ferritin level.
- Severe Sepsis or Septic Shock: Although not directly suggested by the laboratory results, severe sepsis or septic shock can cause multi-organ dysfunction, including liver enzyme elevation and coagulopathy, which could be deadly if missed.
- Rare diagnoses
- Pearson Syndrome: A rare mitochondrial disorder that can cause severe anemia, hepatosplenomegaly, and elevated liver enzymes. However, this condition typically presents in early childhood, making it less likely in a 21-year-old patient.
- Thalassemia Major with hemolysis: Although thalassemia major can cause severe anemia and hepatosplenomegaly, the very high ferritin level and elevated LDH are more suggestive of HLH. Additionally, thalassemia major typically presents in childhood, and the patient's age makes this diagnosis less likely.