A question ,which featured in the Rare Diseases Day video, will have resonated with many aHUS families as it was about someone who had died as a result of the illness.
Aliza was originally diagnosed with colitis, and days after was diagnosed with aHUS . She had ADAMS13 abnormalities and elevated complement Bb SC5b-9 ,C5a and C3a levels , she also had mildly decreased ADAMTS13 . She was put on Soliris and a week later passed away after having colon surgery complications.
Sadly death is still a possibility as the consequences of this illness; and not just from renal failure.
The question is “should she have been diagnosed and put on Soliris sooner”.
There is no doubt that there are barriers to diagnosing aHUS and for many getting access to complement inhibitors is a hurdle too.
Colitis is a debilitating and chronic condition in its own right and an inflammatory flare up may be an injurious event which may, in very uncommon circumstances, trigger aHUS, but eculizumab can control activated complement if not the colitis flare.
Delays of days in getting access to treatment no doubt have a marginal impact on organ damage, but many aHUS patients experience weeks ,or months, of delay and yet have successful outcomes.
What Aliza’s story illustrates is that aHUS does not always come alone; and other co existing ,and maybe triggering conditions, can influence outcomes as much as the timeline between onset and receiving treatment.
Recognising and understanding possible aHUS precipitating conditions like colitis, and the “secondary” forms of aHUS , needs to be a part of the agenda for future aHUS research to help others like Aliza have better outcomes.