Answer to CC #10

Case Challenge #10 presented a 32 year old with SLE who presented with petechiae, pancytopenia, very elevated ferritin, transaminitis, etc.

We asked which of the following would be the most likely diagnosis?

The correct answer is: Hemophagocytic Lymphohistiocytosis (HLH)

  • Multisystem disorder of excess immune activation due to either genetic cause (primary) or triggered by secondary causes
  • Triggers: Infections (EBV, CMV, HIV, Histo, TB), heme malignancy, autoimmune disease (AOSD, SLE, RA)
  • Latter is termed macrophage activation syndrome
  • Presentation: Fevers, HSM à MODS, ARDS, shock from cytokine storm.
  • Labs findings: Pancytopenia, DIC, abnormal LFTs. Marked elevation in ferritin and triglycerides. Hemophagocytosis on BM or liver biopsy.
  • Treatment: Steroids +/- chemo, Rx triggering condition, supportive care