An Interesting Case of Atypical Hemolytic Uremia

Introduction: Atypical Hemolytic Uremia Syndrome is a rare condition characterized by anemia, thrombocytopenia with evidence of hemolysis and lack of evidence of shiga toxin preset. This disease has serious health considerations such as development of hypertension, renal failure and carries a high mortality. More recently identifiable genetic mutations and newer treatments with monoclonal antibodies working to block the complement mediated pathway have revolutionized the way this disease can be treated. Case Description: 29 year old white female patient with a past medical history of TTP, obesity, and PCOS presented to an outside hospital (OSH) with abdominal pain, fever/chills and symptoms of upper respiratory infection. She was found to have AKI and concerns for atypical hemolytic uremic syndrome recurrence. She was treated for aHUS several months prior which was thought to have been triggered by influenza infection. She was found to have anasarca, hypertension and developed new onset seizures. MRI following seizure was concerning for PRES (posterior reversible encephalopathy syndrome), she also had spinal tap performed which demonstrated elevated pressures. She was started on CVVHDF given the concerns for increased intracranial pressures. Her blood pressure was controlled and kidney biopsy was performed with findings consistent with thrombotic microangiopathy (TMA). She was started on eculizumab prior to her transfer, this was continued. Here platelets and markers of hemolysis showed signs of improvement. She had genetic studies demonstrating heterozygous CD46/MCP mutation. Discussion: This patient was found to have a genetic mutation likely responsible for repeated occurance of atypical hemolytic uremia syndrome. She responded well to the infusion of C5 inhibitor, eculizumab. This case was marked by multiple complications including seizures, hypertension, PRES all which complicated patient care. Patient currently continues to be dialysis dependent. She is also being continued on eculizumab as an outpatient.