July 24, 2012

Rare disease breakthrough as scientists make vasculitis discovery

Scientists we fund at the University of Cambridge have shed new light on a rare but deadly disease of the circulatory system.

The researchers looked at the genes of people disagnosed with ANCA-associated vasculitis, which affects almost 9,000 people in the UK. Patients' blood vessels are attacked by their own white blood cells, a problem which can affect any organ but in particular the kidneys, lungs and airways.

The only treatment is immunosuppressive drugs, which counteract the immune cells responsible for our body’s natural defences but can cause serious side effects. Better treatments are needed.

The researchers tracked down more than 1,200 UK patients diagnosed with ANCA-associated vasculitis and a further 1,400 with the condition from Europe. Using cutting-edge genetic analysis, they showed that patients actually fall into two distinct groups, depending on the genetic variants they carried.

Shedding new light on this devastating, often fatal, disease could point towards new strategies for managing the condition in the future

Professor Ken Smith, Professor of Medicine at the Cambridge Institute of Medical Research (CIMR) at the University of Cambridge, one of the leaders of the study, said: “Our study demonstrates for the first time that ANCA-associated vasculitis is not really one condition, but two diseases with different causes hiding under one umbrella. Our key finding is that an important difference between the two groups is in the genes, and not only in the symptoms we can see.

“We can tell which group a patient belongs to with a simple blood test, so we hope our discovery helps lead to new treatments that target each group."

Our Research Advisor Dr Hélène Wilson said: “ANCA-associated vasculitis is one of several rare diseases affecting the circulation. Although well known to doctors, the genetic cause was unclear until now.

“Current treatments that suppress the immune system do work, but they are not ideal and can cause problems. By shedding new light on this devastating, often fatal, disease, this breakthrough could point towards new strategies for managing the condition in the future. It also underlines the importance of genetic studies in coming up with better diagnoses and treatments for diseases.”

The study was published in the New England Journal of Medicine. It was also funded by the National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre and supported by the Wellcome Trust.