Differential Diagnosis for a 24-year-old Male with Fever, Deranged LFT, Increased LDH, Pancytopenia, Increased Ferritin, and Episode of Blood Vomitus

• Single most likely diagnosis:

  • Hemophagocytic Lymphohistiocytosis (HLH): This condition is characterized by fever, cytopenias, elevated ferritin levels, and hemophagocytosis in the bone marrow, spleen, or lymph nodes. The presence of direct hyperbilirubinemia, increased LDH, and pancytopenia, along with an episode of blood vomitus, suggests a severe systemic condition like HLH.

• Other Likely diagnoses:

  • Acute Leukemia: The combination of pancytopenia, increased LDH, and deranged liver function tests could suggest acute leukemia, particularly if there is bone marrow involvement affecting blood cell production.
  • Lymphoma: Similar to leukemia, lymphoma could explain the systemic symptoms, cytopenias, and elevated LDH, especially if there is liver involvement.
  • Severe Sepsis: Although less likely given the duration of symptoms, severe sepsis could lead to multi-organ dysfunction, including liver dysfunction, coagulopathy (potentially leading to blood vomitus), and pancytopenia.

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

  • Acute Liver Failure: Direct hyperbilirubinemia and deranged LFTs could indicate acute liver failure, which is a medical emergency. Causes could include viral hepatitis, drug-induced liver injury, or ischemic hepatitis.
  • Disseminated Intravascular Coagulation (DIC): Given the pancytopenia and episode of blood vomitus, DIC should be considered, as it can lead to severe bleeding complications and is associated with high mortality if not promptly treated.
  • Malignant Histiocytosis: A rare condition that could present similarly to HLH, with systemic symptoms, cytopenias, and organ dysfunction.

• Rare diagnoses:

  • Gaucher's Disease: A lysosomal storage disorder that can lead to pancytopenia, hepatosplenomegaly, and elevated liver enzymes, although it typically presents in childhood.
  • Niemann-Pick Disease: Another lysosomal storage disorder that can affect the liver and spleen, leading to cytopenias and liver dysfunction, but it is very rare and usually presents in early childhood.
  • Autoimmune Lymphoproliferative Syndrome (ALPS): A rare condition characterized by chronic lymphadenopathy, splenomegaly, and cytopenias due to autoimmune destruction of blood cells, which could potentially explain some of the patient's symptoms.