Most people can't pronounce it, and physicians have trouble diagnosing it. But for one in 100 Canadians, Ankylosing Spondylitis is a real cause of lower-back trouble
 
By Kate Cottrell

Imagine this: a healthy athletic individual in the prime of life is stricken with persistent, sometimes immobilizing pain. Despite his ongoing efforts, it remains misdiagnosed or undiagnosed for nearly a decade. Now imagine Michael Mallinson's frustration. Shortly after the birth of his two daughters, when he was in his early 30s, the Toronto banker embarked on the most diffi¬cult years of his life. "I started experiencing severe pains down the backs of my legs. At first, I just thought it was from bending down to pick up the girls all the time. But it quickly got to the point where I couldn't lift my children or much else. At times, the muscles were so contracted from the pain in my legs that I couldn't even walk. At one point, I had to take two weeks off work."

Mallinson's family physician told him he had sciatica, and referred him to a physiotherapist. Years of physiotherapy did little, so Mallinson turned "in desperation" to chiropractic and underwent treatments for a few more years. "When I told my chiropractor it wasn't helping at all, he suggest¬ed I might have ankylosing spondylitis (AS), which I had never heard of and couldn't pronounce." (ankle-low-zing spond-ill-eye-tiss.)

A rare form of arthritis
Michael's story is common among people who have ankylosing spondylitis, a relatively rare form of arthritis that affects about one in 100 Canadians. He recounts many instances of people passing though top-notch hospitals and clinics undiagnosed, or wrongly diagnosed, despite having hallmark signs of the disease. AS is an inflammatory arthritis that affects the spinal joints, particularly the sacroiliac (SI) joints located at the base of the spine where it joins the pelvis. "It may be seven or eight years before the diagnosis is made," notes Dr. Robert Inman, Professor of Medicine at University of Toronto and Director of the Spondylitis Clinic at Toronto Western Hospital. It isn't the first thing that primary care physicians think of, given that back pain is very common, and only about five percent of people with back pain will have AS. AS is often misdiagnosed as low back strain, lumbago, disc disease, sciatica, or various other disorders that suggest the pain is due to a mechanical rather than inflamma¬tory condition. In suspected AS cases, it's best to have an assessment by a rheumatologist, Dr. Inman advises.

The why of an MRI
In pin-pointing AS, symptoms alone are not enough; the diagnosis must be confirmed by X-ray evidence of joint damage. Unfortunately, notes Dr. Walter Maksymowych, Professor of Medicine at the University of Alberta in Edmonton, "An X-ray may take many years before it [appears] abnormal, so a patient may have symptoms for many years that are undiagnosed simply because the X-ray looks normal." Drs. Maksymowych and Inman are leaders of the Spondylitis Research Consortium of Canada, which has pioneered the use of MRI to address this problem, particularly in suspected juvenile AS (20 percent of AS patients are under 18). The MRI can show the degree of inflammation in the spine at a time when a regular X-ray still appears normal, explains Dr. Inman.

Living with pain that is undiagnosed and inadequately treated takes a toll, says Mallinson. "You can be fine one day and pretty well bedridden the next. And you don't look sick at all. Before you are diagnosed, you begin to feel that no one really understands. Or you start to wonder if you're crazy or if the pain is just psychosomatic," he explains.
Ankylosing spondylitis affects about three times as many men as women; patients usually feel the onset in their 20s and 30s. However, it may take seven or eight years before they get a diagnosis.
Treatment poses another challenge. The course of AS is unpredictable and varies considerably from one person to the next. While AS is characterized by acute painful episodes and remissions, some people have passing episodes of back pain that never prog¬ress, while others have chronic severe back pain leading to a degree of spinal stiffness over time. Recently, researchers have identified a biomarker in the blood that helps predict the 40 percent of people with AS who will develop the more severe form of the disease. "This allows us to target patients at highest risk for joint damage for more aggressive treatment," says Dr. Maksymowych.

Biologics - a treatment breakthrough
The treatment breakthrough of the last decade, biologic therapy, has revolutionized the management of AS for the 50 percent of people whose symptoms do not respond to the established first-line treatments (exercise, stretching, and nonsteroidal anti-inflam¬matory drugs [NSAIDs]). With biologics, "Most patients not only have complete relief of symptoms, but also go back to work," Dr. Maksymowych reports. Biologics are derived from living organisms. They are designed to either inhibit or supplement cytokines, proteins crucial in either fueling or suppress¬ing inflammation. The drugs Humira, Enbrel and Remicade are approved for AS.

Biologics have a longer track record in other inflammatory conditions, such as rheumatoid arthritis (RA), where they have been shown to delay disease progression. That potential has yet to be demonstrated in AS, according to Dr. Inman: "We are still gathering evidence of the biologics' effects on long-term structural change."

Biologics haven't been around long enough for definitive information on the long-term safety issues either, says Dr. Maksymowych, who has helped monitor the effects of biolog¬ics for the last decade. "So far there have been no major concerns. These drugs appear to reduce the risk of heart attacks and strokes in people with chronic inflammatory disor¬ders [which are linked with increased heart disease risk]. More importantly, the effect of these agents is quite profound, not only on the arthritis, but on many of its complications, such as psoriasis, inflammatory bowel disease, and inflammation of the eye (iritis), which affects 35 to 40 percent of people with AS," says Dr. Maksymowych.

Where to find support
Mallinson, now 58, went into remission short¬ly after he was diagnosed 16 years ago. For the past several years, he has been involved with the Ontario Spondylitis Association, of which he is currently president. The education and moral support provided by the OSA are particularly important, he points out, since most people with AS probably don't know anyone else who has it or has ever heard of it. "It's important to let people know that they're not alone, and to give them the information they need to manage their disease when they're first diagnosed," he says.

Mallinson knows how important early diag¬nosis and treatment are. Throughout his 10-year odyssey, he continued to exercise and stretch daily, and does so to this day. "My posture is remarkably good for what I went through. The inflammation tends to make you seize up a bit, and spondylitis involves actual growth of bone in the spine so the spine fuses. If you can reduce inflammation with medica¬tions and maintain flexibility with exercises, particularly when the disease is active, you're on your way to a decent lifestyle."

Research
Ankylosing Spondylitis is almost entire¬ly genetic in its causation, notes Dr. Maksymowych. But for the time being, genetic testing is of little help in diagnosing AS, since until recently, science had identified only one of several possible genetic factors associated with the disease. Researchers (including the Spondyloarthritis Consortium of Canada, have now discovered a second gene called interleukin-1 (IL-1), and work continues to identify a third. "There are prob¬ably three or four genes that together, trigger AS. If we identified all these genes, we might be able to identify people with AS before they experience any joint damage. It's a future hope," he says.

Red flags for AS

Lower back pain that:
• Persists longer than 3 months
• Improves with exercise but not with rest
• Awakens a person at night
• Is associated with prolonged morning stiffness
• Occurs with alternating buttock pain
• Affects a person who has had episodes of painful eye inflammation (iritis)

Want to learn more?

The Spondyloarthritis Research Consortium of Canada is partnered with the Canadian Spondylitis Association. Canadians with AS can participate in research studies, and thus gain access to new therapies, early diagnosis and comprehensive treatment.

Ontario Spondylitis Association (OSA) is currently the national link for the Canadian Spondylitis Association and for information on the Spondylitis Research Consortium of Canada.

Ontario Spondylitis Association
416-979-7228
www.spondylitis.ca

Arthritis Society of Canada
1-800-321-1433
www.arthritis.ca

This story originally appeared in The Health Journal, Print Edition, Winter 2006, pp. 32-33