When Stephanie McClarance was 11 years old, she experienced sore knees that were warm to the touch and always swollen. The aches never went away completely, and doctors chalked it up to growing pains. New joint aches followed, and trips to various doctors and specialists began in earnest. By the time she was 21, McClarance suffered spine stiffness and lower-back pain daily. Because she worked with horses, she dismissed the symptoms as part and parcel of the job — no longer growing pains, but chronic discomfort that could, nonetheless, be explained away. Then in 2014, everything changed; McClarance woke up one morning, and she could no longer walk.
“I was prescribed Tramadol [an opioid-based pain medication],” McClarance says, “and doctors spent a further four months scratching their heads and not understanding why I was experiencing these symptoms.”
It wasn’t until McClarance was referred to a spine surgeon that things fell into place. After several rounds of tests, McClarance finally learned what ailed her. A simple blood draw, along with an evaluation of her medical history, revealed ankylosing spondylitis (AS), also known as Bechterew’s disease.
“It took 11 years of MRI scans, various tests, and being told nothing was wrong with me,” says McClarance. “I firmly believe they saw a young, active female and immediately ruled out anything rheumatological without testing for it.”
Because ankylosing spondylitis strikes men more often than women, usually presenting during their late teens and early 20s, McClarance might have a point. And females, when they are diagnosed, tend to experience a milder form of the disease — not the case for McClarance, who suffered for years.
While the male to female ratio likely contributed to McClarance’s late diagnosis, other factors probably played a role as well. For example, ankylosing spondylitis symptoms, especially early on, can mimic other medical conditions or issues — everything from a slipped disc to a stiff neck, from a twisted knee to a strained back muscle. Ankylosing spondylitis is simply not the first disease that comes to mind.
“It’s difficult to diagnose because it is not thought of by primary-care providers,” agrees Nathan Wei, MD, director of the Arthritis Treatment Center in Frederick, Maryland. “Often patients with neck and low back pain are referred to orthopedists who like to cut — not something that will help a patient with AS.”
Wei’s own son, Benji, was diagnosed with the disease when his father was in medical school. Like McClarance, the 10-year-old made the rounds to specialists, including pediatric rheumatologists. Because he played soccer, his knee pain and swelling were thought to be sports related. Also, like McClarance, his diagnosis and subsequent treatment took time.
Benji was lucky. His condition was identified early.
But after more than a decade, McClarance was just getting a label to put on her myriad of symptoms. What did this label mean?
What is ankylosing spondylitis?
The disease causes chronic inflammation of the spine. It is a form of progressive arthritis, which affects the neck, back, and, in some cases, other joints and organs in the body, including the knees, heels, eyes, and shoulders. Left untreated, this inflammation leads to ankylosis (or bone formations in the spine), fusion of vertebrae, and immobility. In severe cases, the ribs can fuse with the spine, making it difficult and painful to expand the lungs when breathing. Because ankylosing spondylitis is a systemic disease, sufferers can present with fever and loss of appetite. In some cases, the disease can even affect the heart.
This may sound familiar to those with rheumatoid arthritis (RA), and the two can present very similar symptoms. However, there are significant differences between ankylosing spondylitis and rheumatoid arthritis.
“AS and RA are inflammatory diseases that affect the joints,” Wei explains, “but AS preferentially attacks the spine. It is rheumatoid factor negative and is much more difficult to diagnose. The genetic marker HLA B27, for example, is positive in more than 90% of patients with AS.” An HLA B27 blood test would not be indicative of rheumatoid arthritis. McClarance is an example of an HLA B27 positive diagnosis.
But what about those who are HLA B27 negative?
“Unfortunately, these patients are sometimes diagnosed late,” Wei explains, “when spinal fusion may already be occurring. Unless there is a high index of suspicion, the diagnosis can be delayed a long time.”
HLA B27 negative
Despite the HLA B27 blood test, ankylosing spondylitis is still diagnosed through a combination of clinical history, blood work, and X-rays. Additional evaluation is necessary because not everyone who tests positive for HLA B27 develops ankylosing spondylitis.
Maya Berger, 43, is HLA B27 negative and waited almost four years for her diagnosis in 2012, despite her father being a physician.
“I got a pain in my lower back and then my hips and my tailbone when I was 35 years old,” says Berger. “I went to many physicians, but no one knew what was wrong with me.”
Berger even flew to Switzerland, where doctors scanned her spine and told her nothing was wrong. It wasn’t until she saw a friend’s pediatric rheumatologist that ankylosing spondylitis was mentioned, and it took a further appointment with yet another doctor before she received the definitive diagnosis.
Despite Berger being HLA B27 negative, it took less time for her to be diagnosed than it did McClarance.
Why is ankylosing spondylitis difficult to diagnose?
The road to diagnosis
Because not every sufferer who is HLA B27 positive develops ankylosing spondylitis, the blood test alone is not enough to diagnose the disorder. A clinical history of joint changes and aches as well as a physical examination of the spine must also be factored in to help doctors move closer to an ankylosing spondylitis verdict.
Elevated levels of C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) in the blood, for example, are indicative of systemic inflammation, commonly high in diseases like rheumatoid arthritis and ankylosing spondylitis. McClarance presented with a high CRP and ESR early in her disease. “Not one consultant picked up on my high CRP and ESR levels that did not once fall into normal levels,” says McClarance.
X-rays and the MRI can show spinal fusion or ankylosis of the spine. In early disease, an MRI may capture the joint and spinal changes frequently seen in the disorder.
AS is almost as common as rheumatoid arthritis, yet the signs are often missed. In fact, sufferers have been known to Google their symptoms and bring the possibility of having the disease to the attention of their doctors, a proactive step in reaching diagnosis and receiving treatment before joint and spine damage become extensive or even permanent.
A study conducted in 2002 found that 54% of sufferers waited five years between their first symptoms and eventual diagnosis. Another 30% lived with the condition for 10 years before ankylosing spondylitis was discovered. Unfortunately, these delays can mean permanent damage, poor life quality, and even premature death. The latter occurs because failure to treat leaves the sufferer vulnerable to cardiac involvement.
The most frequently observed cardiac complications are conduction defects and aortic insufficiency. In the latter, the aortic valve doesn’t close completely, allowing a small amount of blood to return to the heart when it should not. The heart works overtime trying to supply the body with needed blood, beating strongly for extended periods. Eventually, the heart becomes unable to keep up with the body’s demand.
Although diagnosis can take time, the numbers today are better than they were even 15 years ago.
“As with any medical condition, the differential diagnosis for AS can be very broad, particularly when dealing with neck and back pain,” says Anil Nair, a neurosurgeon with IGEA Brain & Spine. “That being said, with good communication between specialists and primary care providers, it would be unusual for a missed diagnosis of ankylosing spondylitis in a relatively timely manner.”
Good communication between patients, specialists, and primary-care providers can shorten the journey to diagnosis. Also, in the era of the internet, it’s not a bad idea for patients to look up their symptoms, provided they stick to trusted websites — affiliated hospital sites or online medical journals.
“While the physician is likely to focus on more common diagnoses,” says Nair, “if a patient has a specific condition they are concerned about, it is completely appropriate to be proactive and discuss the possibilities with their physician.”
Ankylosing spondylitis treatments
“The treatment for AS has improved significantly in the last few years as newer medications have emerged to treat it,” says Justin Park, MD, of the Maryland Spine Center. “Namely, the emergence of disease-modifying anti-rheumatic drugs [DMARDs], such as methotrexate.
“Biologic drugs or TNF inhibitors such as adalimumab, etanercept, and infliximab are also being used when NSAIDs like ibuprofen and naproxen alone are not enough to reduce symptoms associated with AS,” Park continues.
“There are also new therapies such as Cosentyx,” says Wei, “which may provide a more targeted approach than TNF inhibitors — not to knock TNF inhibitors, since they have helped a great deal in the management of AS.” Cosentyx is an immunosuppressant that decreases the effects of a chemical substance in the body that can cause inflammation.
Yet, Wei says the mainstay of treatment is physical and occupational therapy. Daily exercise programs have been shown to reduce the joint stiffness and back pain seen in ankylosing spondylitis.
Park, unlike Wei, tends to see patients late in their disease, when spinal surgery is indicated. Typical surgeries seen in AS include one or more of the following:
• osteotomy: bone is removed or manipulated to correct angular deformities;
• decompression: indicated to decompress associated nerves of the spinal cord to restore function; or
• spinal instrumentation and fusion: used to correct deformity and make the spine more stable, often replacing a section that is missing or damaged.
“AS patients should realize that even minor trauma to their spines can oftentimes lead to serious spine fractures that demand the immediate attention of a spine surgeon,” says Park.
Stay proactive and diligent. If a medication or treatment isn’t working, see a rheumatologist immediately. There are many options out there, and what works for some will not work for all.
The good news, according to Wei, is that today “it’s uncommon for a patient diagnosed with AS not to be put into remission.”
McClarance now has a degree in physical therapy and started work in September 2017.
“I was really unlucky,” she says, “in that I was diagnosed just one month before starting university so I had to deal with a new diagnosis, medication trials, hospital appointments, scans, blood tests, etc.”
But she feels the extra time allowed her to learn more about ankylosing spondylitis and the best treatments going forward. She still has pain daily, but counts the drug Simponi (TNF therapy) as the medication that significantly improved her symptoms, along with exercise.
McClarance also blogs about her condition at aswarrior.simplesite.com.
“I started my blog to help others understand they are not alone in what they are going through — what they are going through is normal — and also to give some advice as to what helped me deal with different aspects of my condition,” she explains.
Wei’s son Benji started taking a TNF inhibitor immediately after his diagnosis and has been in remission ever since — except for one bout of uveitis (inflammatory eye disease) that required a switch in medications. Now he is 26 years old and works as a data scientist.
Berger spent several years in marketing, but she recently went back to school to learn Pilates and then opened her own studio. She also wrote a book about her journey to diagnosis called Luna Tree (www.thelunatree.com). “I wanted people to know that there is a light at the end of the tunnel,” she explains. “You just have to find it. And looking for it is exhausting, I know.”
Both McClarance and Berger suggest being proactive in treatment and even in diagnosis, but this alone is not enough.
“I think the problem lies in lack of awareness of AS,” McClarance explains. “Up until recently, there was no tick sheet, as it were, when questioning a patient on their symptoms.”
One way or another, McClarance, Berger, and Benji have sought out careers in health — whether administrative, therapeutic, or exercise-based. They are enjoying physically active lifestyles and doing their part to raise awareness. It’s important to remember that ankylosing spondylitis now has a much better outcome than it did decades ago. Just ask Berger…after she finishes leading her class in a grueling Pilates session.