The inherited pain of Ankylosing Spondylitis

Ankylosing Spondylitis is an inflammatory disease predominantly affecting the spine, causing severe pain, stiffness and loss of movement. In the later stages, chronic disease can lead to a fusion of the vertebral column resulting in virtual immobility. In addition to the spine, the disease can affect other joints (mainly hips and knee), causing pain, swelling of the affected joints and permanent damage if it is not adequately treated.

What are the causes?
Ankylosing Spondylitis is believed to be genetically inherited. People with a particular gene called HLA-B27 are at a much higher risk of developing Ankylosing Spondylitis although not everyone with this gene will have the disease. There is no consensus in the medical community as to the other factors that cause the disease; some researchers put it down to a combination of factors ie, genetics and environment.

What are the symptoms?
Inflammation of the spine and joints are symptoms associated with the disease. Pain in the lower / mid back, buttocks and neck is usually the initial symptom. Pain is generally worse while resting and more prevalent in the early morning hours resulting in disturbed sleep. It reduces with physical activity and anti-inflammatory pain killers. The onset of pain is generally gradual and worsens over a period of time. In some cases, the progression can be rapid and very disabling.

What is the diagnosis?
The diagnosis of Ankylosing Spondylitis is based on the patient’s symptoms, a physical examination, X-ray findings and blood tests. The changes on X-ray are apparent only in the later stages of the disease.

Magnetic Resonance Scan (MRI) is helpful to diagnose the disease in its early stages and also to delineate the severity.

Who is affected?
Ankylosing Spondylitis is approximately three times more common in men than women. It is generally seen in people within the age group of 20 to 40 years. However, in rare cases, it also affects children.

What is the treatment?
Traditionally, the treatment for Ankylosing Spondylitis involves the use of painkillers, physiotherapy and exercise. These only give partial relief from pain but do not prevent the progression of the disease. Joint replacement surgery is recommended for those with severe hip or knee arthritis.

More recently, newer drugs (Biological therapy / anti-TNF therapy) have been discovered. The advent of biological therapy has revolutionised care for patients with this disabling disease. Infliximab (Remicade) and Etanercept (Enbrel) are the two drugs now available in India.

Problem areas
A severe case of the disease can develop into complete fusion of the spine (known as Ankylosis). Once fused, the pain disappears, but spinal mobility is lost resulting in a severely compromised quality of life.

The disease could affect the hips and knees resulting in permanent damage.

Some patients with Ankylosing Spondylitis develop problems other than in the spine - eye inflammation (uveitis), skin rashes (psoriais) and chronic diarrhoea (inflammatory bowel disease).

What does the doctor say?
It is important to diagnose and treat patients with Ankylosing Spondylitis early so as to enable the patient to lead a relatively normal life. The disease is chronic and hence long-term care is necessary.

More awareness needs to be created among the medical community and the general public to ensure early diagnosis and appropriate treatment.

Dr Ramesh Jois, MD, MRCP (UK), CCST (RHEUM - UK), rheumatologist, Wockhardt Hospitals.