UK aHUS Patient/Family Support Group Meeting, Saturday 10th September, London
Following the UK aHUS patient/family conference in June, one thing that came through very strongly in the feedback from the meeting is the desire to see a UK aHUS patient-family support group established. To take this further a meeting will be taking place in London on Saturday 10th September. The venue is to be confirmed but to help us estimate numbers please register here.
The first aHUS patient family conference was held at the International Centre for Life in Newcastle upon Tyne on June 11th 2011
110 delegates attended the conference where experts in the disease and its treatment from all over the UK spoke on a variety of topics. The conference provided an opportunity for patients and their families affected by this rare disease to meet one another and discuss common issues. Patients and their families contributed to several of the presentations by sharing their experiences. All the presentations were filmed and can be viewed by clicking on the link in the programme.
PROGRAMME
Welcome Tim Goodship
What is atypical HUS? Sally Johnson | Video
Rare diseases registry for aHUS Mark Taylor | Video
What is complement? Matthew Pickering | Video
Genetics and aHUS Judith Goodship | Video
Treatment of aHUS - liver transplant Pat McKiernan | Video
Treatment of aHUS - eculizumab Neil Sheerin | Video
aHUS - the future Tim Goodship | Video
Establishing a UK aHUS support group Jamie Holyer | Video
Close of meeting
What is atypical HUS?
Haemolytic uraemic syndrome, also known as "HUS" is a condition in which small blood-vessels are blocked by blood clot. This occurs particularly in the vessels which supply blood to the kidney and can thus cause kidney failure. It is usually a serious complication of infection with the bacteria E.Coli O157. This organism causes a severe gastrointestinal infection from which recovery is usual. However, 5-10% of patients develop kidney failure. This is secondary to a bacterial toxin which attaches itself to the lining of blood-vessels in the kidney causing them to become blocked with clot. Most patients recover from this. There is a rarer form of HUS, called atypical (aHUS), which is not associated with E.Coli O157 infection. Atypical HUS (aHUS) has two variants, sporadic and familial. Both forms occur often without any preceding illness but can be triggered by pregnancy, infection and certain drugs. Recovery of kidney function is less common and many patients require long term dialysis. In the familial form several members of a family will, over time, be affected. Both inherited (genetic faults) and acquired (autoimmune) abnormalities affecting a group of proteins, named complement , are found in about 70% of aHUS patients. These proteins play an important role in allowing the body to distinguish between its own and foreign cells. If these proteins are abnormal then the body's own cells can be damaged by mechanisms designed to destroy foreign cells.
How is aHUS treated?
Most patients who develop aHUS for the first time are treated with plasma exchange. Plasma is the liquid part of blood in which circulate red cells, white cells and platelets. Plasma contains various proteins including complement. When plasma exchange is undertaken blood is first removed from the body via a vein, the plasma is then separated from the cells and discarded. Replacement plasma from blood donors is then added back to the cells and the blood returned to the body. In aHUS plasma exchange is usually undertaken daily. Some, but not all, patients respond to this treatment. Those who do not respond develop permanent kidney failure and need long-term dialysis. Even those who respond may need to undergo plasma exchange every so often to prevent the disease coming back. A new treatment with a drug (called eculizumab) that blocks complement has recently been undergoing trials. The early results from these trials are favourable and will hopefully soon be published in a medical journal. If these results stand up to independent scrutiny then eculizumab might soon be licensed for the treatment of aHUS in the UK.
Is kidney transplantation successful in aHUS?
Kidney transplantation in those patients who need long-term dialysis has not been as successful as in other conditions that cause kidney failure. This is because the disease can recur in the transplant and when it does there is a high-risk the transplant will then fail. Because some of the abnormal complement proteins are produced by the liver a small number of patients world wide (less than 20) have undergone a combined liver-kidney transplant. The results of this have been variable but those that have been undertaken in the UK have so far all been successful. In the future a higher success rate for kidney transplants alone may be achieved if eculizumab is given at the same time.