Ankylosing Spondylitis

Ankylosing spondylitis (Bechterew´s disease) is a chronic inflammatory disease of the locomotor (musculo-skeletal) apparatus that primarily affects the sacroiliac joint (the joint between the sacrum and pelvis) and the vertebral column. This manifests as the progressive stiffening and even ankylosis (total rigidity) of the vertebral column. In almost one half of cases, the inflammatory process also affects peripheral joints, most frequently the hips. The basic symptom of ankylosing spondylitis is thus pain in the small of the back.

As to incidence, ankylosing spondylitis ranks among the intermediately frequent rheumatic diseases. It afflicts mainly young men, most frequently between the age of twenty and thirty. In Central Europe, the disease affects one tenth of a percent of the population.

Ankylosing spondylitis is an autoimmune disease that manifests as the production of antibodies against ones own tissues. This results in inflammation and ossification of fibrous tissue and tendons.

Symptoms
The first symptom of the disease is usually pain in the small of the back. The pain is usually most prominent at night; at absolute rest- sometimes it is necessary to get up and seek relief from the pain with warm-up exercises. Pain of the heels may also appear. Pain of the thoracic vertebral column restricts respiration. This is a generalised inflammatory disease, which is why mild fever, exhaustion, night sweats and frequent fatigue may appear. Another symptom is the progressive rigidity of the vertebral column (most often in later stages).

Causes
The cause of the disease is not yet completely clear. This is a long-term inflammatory affection of the vertebral column. Why such inflammation occurs, why it progresses and why it afflicts mainly young men has not as yet been explained. Incidence of the disease is associated with the HLA-B27 antigen.

Treatment
Currently, the disease is incurable and treatment is in general anti-inflammatory. Non-steroidal anti-inflammatory drugs that mainly act against pain are used in most cases. Other medication used includes immunosuppressant drugs that should suppress the autoimmune reaction against the body led by its own cells. Rehabilitation, ergotherapy and physiotherapy are a very important component of treatment. In extreme cases, surgery may be considered, e.g. replacement of whole joints.

How can GenScan reveal the risk of developing ankylosing spondylitis?
The relationship between an allele and ankylosing spondylitis has been known for a long time. GenScan analyses the presence of the HLA-B*27 allele, which is encoded in the genetic information of 90-95% of persons suffering from this disease. GenScan can thus explain the causes of an already symptomatic disease, or warn of certain risks.