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Differential Diagnosis for a 7-year-old girl with Systemic Juvenile Idiopathic Arthritis

Single Most Likely Diagnosis

  • Macrophage Activation Syndrome (MAS): This condition is a known complication of systemic juvenile idiopathic arthritis (sJIA) and is characterized by high fevers, lethargy, hepatosplenomegaly, and laboratory findings such as cytopenias (low WBC, hemoglobin, and platelets), elevated liver enzymes, and coagulopathy. The patient's presentation of persistent high fevers, lethargy, diffuse bruising, hepatosplenomegaly, and specific laboratory abnormalities (e.g., very low erythrocyte sedimentation rate despite severe illness, elevated ferritin levels not provided but typically seen in MAS) strongly suggests MAS.

Other Likely Diagnoses

  • Sepsis: Given the patient's symptoms of high fever, lethargy, and hypotension, sepsis is a possible diagnosis, especially in an immunocompromised patient. However, the presence of hepatosplenomegaly and specific laboratory findings points more towards MAS.
  • Disseminated Intravascular Coagulation (DIC): The patient's low platelet count, low fibrinogen, and elevated liver enzymes could suggest DIC, but this would typically be seen in the context of another underlying condition such as sepsis or MAS.
  • Hemophagocytic Lymphohistiocytosis (HLH): While similar to MAS, HLH is a broader category that includes MAS. The diagnosis would be based on similar clinical and laboratory findings, but specific diagnostic criteria for HLH include molecular or genetic evidence, which is not provided here.

Do Not Miss Diagnoses

  • Sepsis with Bacteremia: Although less likely given the specific context of sJIA and laboratory findings suggestive of MAS, sepsis with bacteremia is a potentially life-threatening condition that must be considered, especially given the patient's immunocompromised state and presentation with fever and hypotension.
  • Malignancy: Though rare, malignancies such as leukemia or lymphoma could present with similar symptoms and laboratory abnormalities, including hepatosplenomegaly, cytopenias, and elevated liver enzymes.

Rare Diagnoses

  • Autoimmune Hemolytic Anemia (AIHA): This condition could explain the patient's anemia but would not account for the full spectrum of symptoms and laboratory findings.
  • Thrombotic Thrombocytopenic Purpura (TTP): Characterized by thrombocytopenia, microangiopathic hemolytic anemia, renal failure, and neurological symptoms, TTP is a rare condition that could present with some overlapping features but is less likely given the patient's overall clinical picture.
  • Lupus: Systemic lupus erythematosus (SLE) can present with a wide range of symptoms including fever, hepatosplenomegaly, and cytopenias, but the specific context of sJIA and the pattern of laboratory abnormalities makes this less likely.

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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