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Abstract: TH-PO144

Cocaine-Associated Atypical Haemolytic Syndrome in a Genetically Susceptible Individual

Session Information

Category: Trainee Case Report

  • 103 AKI: Mechanisms


  • Bongetti, Elisa K., St Vincent's Hospital Melbourne, Airport West, New South Wales, Australia
  • Kavanagh, David, National Renal Complement Therapeutics Centre, Newcastle upon Tyne, United Kingdom
  • Martin, Kylie, St Vincent's Hospital Melbourne, Airport West, New South Wales, Australia
  • Steinberg, Adam G., Royal Melbourne Hospital, Carlton North, Victoria, Australia
  • Rajaram, Yogeshwar Singh, St Vincent's Hospital Melbourne, Airport West, New South Wales, Australia
  • Ierino, Francesco L., St Vincent's Hospital Melbourne, Airport West, New South Wales, Australia

Atypical haemolytic uraemic syndrome (aHUS) is characterised by thrombocytopaenia, renal impairment and non-autoimmune haemolytic anaemia that requires early recognition and urgent treatment. Genetic variants predispose to this condition when a trigger, or, 'complement amplifying condition', is supplied. Identification of new genetic variants and of lesser known complement amplifying conditions are crucial for furthering the understanding of this serious condition.

Case Description

A forty-seven-year-old man presented to the emergency department and was found to have an acute kidney injury, thrombocytopenia, non-immune haemolytic anaemia and hypertension (205/150mmHg). He had smoked cocaine for the first time two weeks prior. The patient was taken to the intensive care unit for urgent plasma exchange with fresh frozen plasma. An urgent ADAMTS13 demonstrated normal level (44.1% [40-130]). Treatment with eculizumab was commenced and the patient responded well. Six months following his initial presentation, the patient was weaned off haemodialysis. The patient was heterozygous for the c.1268C>A p.(Ala423Glu) variant in the CFI gene.


This case highlighted several important points. Firstly, our patient was found to be heterozygous for a rare gene variant previously detected in only two aHUS patients. Although genetic analysis can uncover definitively pathogenic mutations which predispose to aHUS, the interpretation of variants of unknown significance remains a challenge. Secondly, there are few reports of an association between cocaine and aHUS. In our case, it is unclear whether aHUS was triggered by cocaine or hypertension. It responded well to rapid treatment with eculizumab supporting the hypothesis of an underlying immunological complement-based pathogenesis. Furthermore, in the absence of gold standard diagnosis of aHUS in the acute setting, prompt treatment with eculizumab can be challenging and delayed.