Genetic profiling and analysis for the presence of auto-antibodies in patients with axial spondylarthritis
Genetic profiling and analysis for the presence of auto-antibodies in patients with axial spondylarthritis
Doctor Michael NISSEN, Department of Rheumatology, Geneva University Hospital (HUG)
This cohort study studies patients with inflammatory rheumatic diseases who are registered in the Swiss Clinical Quality Management (SCQM) data base. The aim is to identify certain autoantibodies, which are specifically linked to AS, and others that are not. The study will then correlate these autoantibodies with clinical characteristics, data on the distribution and determinants of disease (including environmental factors such as smoking), radiographic data and genetic data.
Up to 2% of the population suffers from axial spondylarthritis (axSpA), which is also known as ankylosing spondylarthritis or Bechterew’s disease. AxSpA is a painful, chronic, incurable and debilitating rheumatic disease which affects predominantly young adults and leads to fusion of the spine and sacroiliac joints in many patients.
Most axSpA patients do not demonstrate signs of inflammation in blood tests and standard radiographs are often normal. As early treatment is impeded by a delayed diagnosis, it is critical to identify new biomarkers, such as autoantibodies that improve early diagnosis. This knowledge may also contribute to a better assessment of disease activity, prognosis and response to therapy.
If biomarkers are found that could be used to test patients, doctors could establish the diagnosis of axial spondylarthritis at an earlier stage and even identify predictive markers in people at risk, before disease breaks out.
