Cocaine-associated atypical haemolytic uraemic syndrome in a genetically susceptible individual

Atypical haemolytic uraemic syndrome (aHUS) is a severe, life-threatening condition that requires early recognition and urgent treatment. In aHUS rare genetic variants in CFH, CFI, CD46, C3 and CFB predispose to complement over activation. This case describes a case of aHUS in which there was a strong temporal association between disease onset and the use of smoked cocaine. The patient was found to have a rare genetic variant in the CFI gene which may have been unmasked by first-time exposure to cocaine. The patient stabilized and improved with early administration of eculizumab, supporting the notion of an underlying immunological pathogenesis and the importance of early intervention. SUMMARY AT A GLANCE Atypical haemolytic uraemic syndrome requires a complex and comprehensive diagnostic approach and specific therapeutic management which has been well described in the index patient who harbours a rare genetic variant in the CFI gene which may have been unmasked by exposure to cocaine.