What is it?
Atypical haemolytic uraemic syndrome (aHUS) is a very rare kidney condition. It is one type of HUS which arises when blood vessels within the kidney’s tiny filters become blocked by blood clots.
The disease is caused by abnormalities in the complement system. Complement is a part of our immune system that is important in fighting infection. It does this by coating both foreign cells (such as bacteria and viruses) and our own cells (including those of the kidney) with proteins called C3 and C4.
The proteins help to destroy bacteria and viruses by damaging their cell walls. Our cells are normally protected from these complement proteins by other ‘protector proteins’ that help control complement. In aHUS, there are faults in the complement system that means the ‘protector proteins’ don’t work properly. As a result, clots form within the blood vessels within the filters of the kidney causing anaemia, a reduction in platelets (a type of blood cell) and kidney failure.
In most cases aHUS is caused by a genetic fault, which is present at birth. But the disease can start to affect you at any age because it is usually triggered by something such as:
- a viral infection
- certain medications
If left untreated, aHUS can be life-threatening and will generally result in end-stage kidney failure.
How does a(HUS) differ from Typical (HUS)?
STEC-HUS (or typical haemolytic uraemic syndrome (HUS) is a similar disease which is generally caused by contracting a bacterial infection, such as those associated with the gastrointestinal bug E. coli O157.
The features of HUS are due to a substance called Shiga toxin that is produced by the E.coli bug, and this form of HUS is now better known as STEC (Shiga-toxin producing E.coli)-HUS. STEC-HUS can also cause sudden kidney failure but usually, you can make a full recovery and have no long-term problems or recurrence of the illness.
Most people with a(HUS) start by feeling generally unwell and become increasingly tired.
It can make you feel like you’ve picked up a bug and can’t shake it off. Other symptoms include reduced urine production, poor appetite and swelling.
Urgent blood tests to confirm anaemia, a reduction in platelets and kidney failure can help in diagnosing HUS. However, confirmation of aHUS usually depends on tests to rule out other types of HUS (such as STEC-HUS or other causes of HUS). Complement studies and genetic testing can also help to identify a problem in the complement system that would make aHUS more likely.
Until very recently most patients with aHUS faced many years on dialysis. Kidney transplants were rarely an option because the disease would recur in the new kidney.
A new treatment called eculizumab is can now be used to control the complement system.
It can prevent kidney failure in patients with recent onset aHUS and can be given to prevent the recurrence of aHUS in the transplanted kidneys.
Patients with aHUS may also need to have:
- dialysis for a short period of time (but some people may still need to remain on it in the longer term)
- plasma exchange – where plasma containing faulty proteins is removed from the body and replaced with fresh plasma containing non-faulty proteins. Plasma is the main component of blood. It is a clear, straw-coloured liquid, which holds platelets, red and white blood cells in suspension. As with dialysis, plasma exchange normally takes a few hours to complete and you will need a line to be inserted into one of your larger blood vessels for it to be carried out.
Help for you
If you have been diagnosed with aHUS and have any questions or concerns about your illness don’t hesitate to speak to your kidney doctor or nurse or contact The National aHUS Service – a team of aHUS experts based at the Newcastle upon Tyne Hospitals NHS Foundation Trust and Newcastle University.
Reviewed April 2019
How research can make a difference
Ros Ford shares her story about inheriting a faulty gene that makes people more likely to develop the rare kidney disease aHUS and the impact that research has had on her life.
The need for more research
With funding from Kidney Research UK, Professor Tim Goodship and his team have discovered a new way to treat a rare and life-threatening kidney disease. Professor Tim Goodship made a breakthrough in understanding how to stop the disease aHUS from destroying patients’ kidneys and this ultimately led to the introduction of a pre-existing drug, eculizumab, as a treatment.
“I’m doing really well now thanks to the selfless actions of my family and a donor I don’t even know."
Answers for aHUS
In 2016, the aHUSUK charity merged with Kidney Research UK. Volunteers from aHUSUK formed a fundraising and campaigning group called Answers for aHUS.
The groups aims to:
- Help and support people affected by aHUS, their families and caregivers.
- Fund research into the understanding the disease, improve treatments and find a cure for aHUS.
- Support the campaign for the drug eculizumab to be made available for all patients in the UK who need it.
The group have successfully campaigned to support the approval of eculizumab for use with aHUS patients. aHUS patients in England are able to receive eculizumab when they need it for as long as they need it. This will lead to patients with aHUS having more successful transplants, reducing the risk of the disease attacking their new kidneys.
For more information or support with any Answers for aHUS fundraising please contact 0300 303 1100 or firstname.lastname@example.org.
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