Differential Diagnosis for Elevated Ferritin with Thrombocytopenia and Hepatomegaly
Single Most Likely Diagnosis
- Hemophagocytic Lymphohistiocytosis (HLH): This condition is characterized by excessive immune activation, leading to the production of high levels of ferritin. Thrombocytopenia and hepatomegaly are common findings due to the systemic nature of the disease, which involves the activation and proliferation of lymphocytes and histiocytes that can infiltrate various organs, including the liver and bone marrow.
Other Likely Diagnoses
- Hepatic Iron Overload: Conditions such as hereditary hemochromatosis can lead to elevated ferritin levels due to iron accumulation in the liver, potentially causing hepatomegaly. Thrombocytopenia might be seen in advanced cases due to liver dysfunction or portal hypertension.
- Chronic Liver Disease: Cirrhosis or chronic hepatitis can result in elevated ferritin levels, hepatomegaly, and thrombocytopenia due to splenic sequestration from portal hypertension.
- Myeloproliferative Neoplasms: Certain myeloproliferative disorders, like primary myelofibrosis, can present with thrombocytopenia, hepatomegaly due to extramedullary hematopoiesis, and elevated ferritin levels from chronic inflammation or iron overload.
Do Not Miss Diagnoses
- Malignant Hematological Disorders: Leukemias or lymphomas can infiltrate the liver, causing hepatomegaly, and lead to thrombocytopenia due to bone marrow involvement. Elevated ferritin can be seen in some of these conditions, especially in the context of tumor lysis syndrome or as a paraneoplastic phenomenon.
- Sepsis or Systemic Infection: Severe infections can cause elevated ferritin as an acute phase reactant, along with thrombocytopenia from consumption or bone marrow suppression, and hepatomegaly from inflammation or abscess formation.
Rare Diagnoses
- Gaucher's Disease: A lysosomal storage disorder that can lead to hepatomegaly, thrombocytopenia due to splenomegaly, and elevated ferritin levels, although the latter is less commonly a presenting feature.
- Wilson's Disease: A genetic disorder leading to copper accumulation in the liver, which can cause liver dysfunction, hepatomegaly, and potentially elevated ferritin levels. Thrombocytopenia might be seen in advanced disease.
- Pearson Syndrome: A rare mitochondrial disorder characterized by sideroblastic anemia, which can lead to elevated ferritin levels, along with hepatomegaly and thrombocytopenia due to bone marrow failure and liver involvement.