Case Presentation: A 19 year-old Caucasian woman presented with progressive fatigue, dyspnea on exertion and dizziness for 3 weeks. Her symptoms were preceded by an unknown bug bite approximately 3 weeks ago. She was seen in urgent care two weeks prior to admission and given a course of unknown antibiotics and started on steroids. She returned to urgent care when her symptoms had not improved and was diagnosed with strep throat and prescribed amoxicillin. There was no complete blood count obtained during either urgent care visit. Her symptoms continued to progress and she presented to our facility. On physical exam, she was found to be tachycardic, with dry mucus membranes, bruised gums, as well as a bilateral erythematous palpable purpuric rash over her anterior shins. Labs were significant for a white cell count of 12.1 (10ˆ3/uL), with 73 percent blasts, severe anemia and thrombocytopenia, low fibrinogen and elevated coagulation labs, concerning for disseminated intravascular coagulation. She was aggressively managed with cryoprecipitate, platelets, fresh frozen plasma, and packed red blood cells. Atypical myeloblast with auer rods were present on peripheral smear, and she received a dose of all trans retinoic acid (ATRA). She subsequently developed a severe headache, emergent computed tomography of the head revealed a left temporal lobe intraparenchymal hemorrhage. She continued to deteriorate despite use of hypertonic saline and mannitol and was made comfort care by her family. She passed within 24 hours of admission.
Discussion: Acute promyelocytic leukemia (APL) is a subtype of acute myeloid leukemia (AML) characterized by atypical promyelocytes with a balanced 15:17 translocation. Atypical cells with Auer rods can often be seen in peripheral smear. APL represents an oncologic emergency and often presents with coagulopathy and potentially life threatening hemorrhage. The rate of early death in APL is debated but is estimated at upwards of 30%. Clinically, APL presents with symptoms of pancytopenia; fatigue, dyspnea on exertion, petechia, and infection. Standard therapy includes all-trans retinoic acid (ATRA) in combination with chemotherapy. Given the high mortality associated with this illness it is imperative that clinicians have a high clinical suspicion and act quickly.
Conclusions: With appropriate treatment, APL is considered a curative form of AML with approximately 85% of patients achieving long-term survival. APL is most commonly seen between the ages of 20 to 60. There may be a bias on the part of clinicians when evaluating otherwise healthy young adults with non-specific symptoms, that can result in a more limited evaluation. It is important that general practitioners in the community be aware of this diagnosis as patients may present in clinic or urgent care with early, non-specific symptoms prior to evaluation in a hospital setting. Early diagnosis is critical in this potentially curable disease.