John F. Kennedy's Pain Story: From Autoimmune Disease To Centralized Pain

When Back Pain Is More Than General Arthritis

Welcome, everyone. I'm Dr. John Whyte, the chief medical officer at WebMD. Ankylosing spondylitis is a type of arthritis that causes pain and stiffness in your spine. It usually starts in your lower back but can also progress to your neck and destroy other joints in other parts of your body.

Now, in medicine we often make words so complicated. So to break it down for you, 'ankylosing' means fused bones. 'Spondylitis' means inflammation of the vertebra. There is no cure for AS. But we do know that there are effective treatments and exercise can help as well. But you first need to recognize if you have ankylosing spondylitis and get the right diagnosis.

So helping me to unpack it all are two experts. Joining me is Dr. Marina Magrey. She's Division Chief of Rheumatology at University Hospitals Cleveland Medical Center, and Dr. Maureen Dubreuil. She's Assistant Professor of Medicine at Boston University. Doctors, thanks for joining me.

MARINA MAGREY

Thank you for having us.

MAUREEN DUBREUIL

Thanks for having us

JOHN WHYTE

Dr. Magrey, I want to start with you. I mentioned what the words mean. But help viewers understand. What typically are the symptoms that someone has with ankylosing spondylitis?

MARINA MAGREY

So the most common symptom the patient has is low back pain which usually starts before the age of 45 years. The back pain is usually insidious or slow in onset. And it's chronic-- lasting for three or more months.

And in addition to that, these patients can also have neck pain, chest wall pain. About 30% to 40% of these patients can have peripheral joint involvement-- predominantly, the joints of the lower extremities. They may have a swollen knee or a swollen ankle and hip pain.

These patients also tend to have something what we call enthesitis, which is where the tendons and ligaments attach to the bones. They have inflammation at those sites and will have pain in these sites. Particularly, they may have pain on the sides of their hips, elbows, shoulders, chest wall. And very rarely in patients with ankylosing spondylitis, they may develop swollen digits and toes which look like sausages.

JOHN WHYTE

So I'm an internist. I see back pain all the time with patients. So I want to delve in a little deeper because that classically, as you point out, is one of the first symptoms. So Dr. Magrey, what's different about the back pain and ankylosing spondylitis, versus general arthritis or lumbar sprain or sciatica?

MARINA MAGREY: The characteristic features of back pain in ankylosing spondylitis is they have inflammatory back pain, which means that this back pain is associated with morning stiffness that usually lasts more than 30 minutes. The back pain gets better with activity. If you ask them as the day goes by if they're up and about, they often mention that the back pain is better. And it gets usually worse or does not improve by sitting.

JOHN WHYTE

So Dr. Dubreuil, it's much more than just back pain. So we don't want people to think, hey, if they have back pain, they might have ankylosing spondylitis. It occurs earlier in life than some other type of arthritis. Do we know what causes it or who might be at more risk?

MAUREEN DUBREUIL

Sure. Well we do have some information about what causes ankylosing spondylitis and other forms of axial spondyloarthritis. We think this is a highly genetic-driven disease, with the primary gene involved at this time, we know is HLA-B27.

HLA-B27 codes for a protein that is on the surface of inflammation, blood cells. And in the presence of this gene, we know that it promotes inflammation through interaction of different inflammatory cells. We believe that women and men are equally affected and there's no specific group of people more likely to get the disease.

JOHN WHYTE

And Dr. Magrey, a patient comes to you. You're starting to think, hey, this might be ankylosing spondylitis. What lab tests or imaging studies are you going to order?

MARINA MAGREY

It's a clinical diagnosis. So we rely on a comprehensive history of this patient. So based on our clinical suspicion is high, there is no any specific blood test which helps us to make this diagnosis. But there are certain tests we order that may aid us.

Like we will order some markers of inflammation-- c-reactive protein, ESR. And if they are elevated, they may increase our diagnostic probability that this patient may have ankylosing spondylitis. But they're only elevated in about, I would say 50% to 60% of these patients.

We do order this genetic test, blood test, HLA-B27, looking if the gene is positive. But all patients may not have the gene. Particularly, African-Americans and minorities. The prevalence of HLA-B27 is much lower in them. And then we usually start with an X-ray of the pelvis because it's believed that the disease starts probably in SI joints, the sacroiliac joints. And that's the first test which we order.

JOHN WHYTE

Didn't they used to say, historically, bamboo spine? Tell us about that.

MARINA MAGREY

So that's the end stage of the disease, when the spine is completely fused. The good news is that in these days, we are not seeing many patients with bamboo spines because there has been a significant advancement in the treatment of this disease. We have multiple medications now available which are capable of preventing that bamboo spine.

JOHN WHYTE

So you order the X-ray, the plain film, the sacroiliac joint. Anything else?

MARINA MAGREY

So that's the first test. Now, that's the gold standard for making this diagnosis. If the X-ray shows us damage in the SI joint, then we call it ankylosing spondylitis or radiographic axial spondyloarthritis.

There are patients in which their X-ray may be normal. Because it takes about 7 to 10 years for these changes to show on an X-ray. So in those patients, we order an MRI of the SI joints. And usually, what we request is MRI of the SI joints with two particular sequences-- T1 and a STIR sequence, looking for bone marrow edema in these SI joints.

JOHN WHYTE

And Dr. Dubreuil, what are the complications of this condition? How does it impact the quality of life for patients?

MAUREEN DUBREUIL

Well, as you can imagine, having inflammation and chronic back pain does impact people's quality of life quite dramatically. So people have limitations and their ability to function in activities of-- sometimes activities of daily living. Sometimes limitations in their jobs or their social roles.

One of the more common impacts is related to sleep in that people have disrupted sleep, and therefore have fatigue. So it is very important in terms of its impact on quality of life, regardless of whether a person has ankylosing spondylitis or another form of axial spondyloarthritis arthritis.

JOHN WHYTE

So a patient has back pain, Dr. Dubreuil. Should they be concerned at all about ankylosing spondylitis if they're young? If other family members had back pain early on? Or do they need to be waiting until they develop some of these other conditions that might give them a greater hint that, yes, this is the reason why. What's your message to viewers?

MAUREEN DUBREUIL: For young people who have chronic back pain, especially if it has some of the inflammatory features that Dr. Magrey mentioned, they should address it with their primary care physician first. One of the more common treatments to begin with is physical therapy. And other common treatments can be tried. But if that pain persists, despite those common treatments, then yes, it may be time to have a workup with a rheumatologist.

JOHN WHYTE

You have to see your rheumatologist for this diagnosis?

MAUREEN DUBREUIL: So rheumatologists are the best people to make the diagnosis because we're the experts in inflammation type of arthritis.

JOHN WHYTE

Well, doctors I want to thank you both for helping us to understand what are the signs and symptoms of ankylosing spondylitis and what tests you might need to make sure you're going to get the best care. Thanks for joining me.

MAUREEN DUBREUIL

Thank you. [MUSIC PLAYING] ","publisher":"WebMD Video"} ]]>

Hide Video Transcript

JOHN WHYTE

Welcome, everyone. I'm Dr. John Whyte, the chief medical officer at WebMD. Ankylosing spondylitis is a type of arthritis that causes pain and stiffness in your spine. It usually starts in your lower back but can also progress to your neck and destroy other joints in other parts of your body.

Now, in medicine we often make words so complicated. So to break it down for you, "ankylosing" means fused bones. "Spondylitis" means inflammation of the vertebra. There is no cure for AS. But we do know that there are effective treatments and exercise can help as well. But you first need to recognize if you have ankylosing spondylitis and get the right diagnosis.

So helping me to unpack it all are two experts. Joining me is Dr. Marina Magrey. She's Division Chief of Rheumatology at University Hospitals Cleveland Medical Center, and Dr. Maureen Dubreuil. She's Assistant Professor of Medicine at Boston University. Doctors, thanks for joining me.

MARINA MAGREY

Thank you for having us.

MAUREEN DUBREUIL

Thanks for having us

JOHN WHYTE

Dr. Magrey, I want to start with you. I mentioned what the words mean. But help viewers understand. What typically are the symptoms that someone has with ankylosing spondylitis?

MARINA MAGREY

So the most common symptom the patient has is low back pain which usually starts before the age of 45 years. The back pain is usually insidious or slow in onset. And it's chronic-- lasting for three or more months.

And in addition to that, these patients can also have neck pain, chest wall pain. About 30% to 40% of these patients can have peripheral joint involvement-- predominantly, the joints of the lower extremities. They may have a swollen knee or a swollen ankle and hip pain.

These patients also tend to have something what we call enthesitis, which is where the tendons and ligaments attach to the bones. They have inflammation at those sites and will have pain in these sites. Particularly, they may have pain on the sides of their hips, elbows, shoulders, chest wall. And very rarely in patients with ankylosing spondylitis, they may develop swollen digits and toes which look like sausages.

JOHN WHYTE

So I'm an internist. I see back pain all the time with patients. So I want to delve in a little deeper because that classically, as you point out, is one of the first symptoms. So Dr. Magrey, what's different about the back pain and ankylosing spondylitis, versus general arthritis or lumbar sprain or sciatica?

MARINA MAGREY: The characteristic features of back pain in ankylosing spondylitis is they have inflammatory back pain, which means that this back pain is associated with morning stiffness that usually lasts more than 30 minutes. The back pain gets better with activity. If you ask them as the day goes by if they're up and about, they often mention that the back pain is better. And it gets usually worse or does not improve by sitting.

JOHN WHYTE

So Dr. Dubreuil, it's much more than just back pain. So we don't want people to think, hey, if they have back pain, they might have ankylosing spondylitis. It occurs earlier in life than some other type of arthritis. Do we know what causes it or who might be at more risk?

MAUREEN DUBREUIL

Sure. Well we do have some information about what causes ankylosing spondylitis and other forms of axial spondyloarthritis. We think this is a highly genetic-driven disease, with the primary gene involved at this time, we know is HLA-B27.

HLA-B27 codes for a protein that is on the surface of inflammation, blood cells. And in the presence of this gene, we know that it promotes inflammation through interaction of different inflammatory cells. We believe that women and men are equally affected and there's no specific group of people more likely to get the disease.

JOHN WHYTE

And Dr. Magrey, a patient comes to you. You're starting to think, hey, this might be ankylosing spondylitis. What lab tests or imaging studies are you going to order?

MARINA MAGREY

It's a clinical diagnosis. So we rely on a comprehensive history of this patient. So based on our clinical suspicion is high, there is no any specific blood test which helps us to make this diagnosis. But there are certain tests we order that may aid us.

Like we will order some markers of inflammation-- c-reactive protein, ESR. And if they are elevated, they may increase our diagnostic probability that this patient may have ankylosing spondylitis. But they're only elevated in about, I would say 50% to 60% of these patients.

We do order this genetic test, blood test, HLA-B27, looking if the gene is positive. But all patients may not have the gene. Particularly, African-Americans and minorities. The prevalence of HLA-B27 is much lower in them. And then we usually start with an X-ray of the pelvis because it's believed that the disease starts probably in SI joints, the sacroiliac joints. And that's the first test which we order.

JOHN WHYTE

Didn't they used to say, historically, bamboo spine? Tell us about that.

MARINA MAGREY

So that's the end stage of the disease, when the spine is completely fused. The good news is that in these days, we are not seeing many patients with bamboo spines because there has been a significant advancement in the treatment of this disease. We have multiple medications now available which are capable of preventing that bamboo spine.

JOHN WHYTE

So you order the X-ray, the plain film, the sacroiliac joint. Anything else?

MARINA MAGREY

So that's the first test. Now, that's the gold standard for making this diagnosis. If the X-ray shows us damage in the SI joint, then we call it ankylosing spondylitis or radiographic axial spondyloarthritis.

There are patients in which their X-ray may be normal. Because it takes about 7 to 10 years for these changes to show on an X-ray. So in those patients, we order an MRI of the SI joints. And usually, what we request is MRI of the SI joints with two particular sequences-- T1 and a STIR sequence, looking for bone marrow edema in these SI joints.

JOHN WHYTE

And Dr. Dubreuil, what are the complications of this condition? How does it impact the quality of life for patients?

MAUREEN DUBREUIL

Well, as you can imagine, having inflammation and chronic back pain does impact people's quality of life quite dramatically. So people have limitations and their ability to function in activities of-- sometimes activities of daily living. Sometimes limitations in their jobs or their social roles.

One of the more common impacts is related to sleep in that people have disrupted sleep, and therefore have fatigue. So it is very important in terms of its impact on quality of life, regardless of whether a person has ankylosing spondylitis or another form of axial spondyloarthritis arthritis.

JOHN WHYTE

So a patient has back pain, Dr. Dubreuil. Should they be concerned at all about ankylosing spondylitis if they're young? If other family members had back pain early on? Or do they need to be waiting until they develop some of these other conditions that might give them a greater hint that, yes, this is the reason why. What's your message to viewers?

MAUREEN DUBREUIL: For young people who have chronic back pain, especially if it has some of the inflammatory features that Dr. Magrey mentioned, they should address it with their primary care physician first. One of the more common treatments to begin with is physical therapy. And other common treatments can be tried. But if that pain persists, despite those common treatments, then yes, it may be time to have a workup with a rheumatologist.

JOHN WHYTE

You have to see your rheumatologist for this diagnosis?

MAUREEN DUBREUIL: So rheumatologists are the best people to make the diagnosis because we're the experts in inflammation type of arthritis.

JOHN WHYTE

Well, doctors I want to thank you both for helping us to understand what are the signs and symptoms of ankylosing spondylitis and what tests you might need to make sure you're going to get the best care. Thanks for joining me.

MAUREEN DUBREUIL

Thank you. [MUSIC PLAYING]

'World's Most Folded Man' Finally Stands Up Straight After 28 Years Thanks To Life-changing Surgery

A MAN dubbed the "folded man" has had life changing surgery after spending years hunched over.

Li Hua, from China, lived with the autoimmune disease ankylosing spondylitis for nearly 30 years before the op.

4

Li Hua, from China, has had life changing surgery after spending years hunched overCredit: AsiaWire

4

He underwent four hospital procedures to break and reconstruct his bonesCredit: AsiaWire

He first started experiencing symptoms of the rare arthritis at the age of 19 and was unable to stand up straight, eat or walk properly for more than 25 years.

But thanks to the surgery he is now able to move around and live a more normal life, he said.

Li told the South China Morning Post: "I've been doing the rehabilitation exercises at home in the past few months.

"Now I can walk slowly with the walking frame, go to the sink, brush my teeth and wash my face. I can hold a bowl and eat like anyone else, sitting at the table.

"I'm happy — I have hope."

Ankylosing spondylitis is a rare condition that affects around 200,000 Brits.

It can cause bones to fuse together, sometimes leading to the spine curving forwards, and can also result in back pain and stiffness, pain in other parts of the body and fatigue.

Experts are not sure what causes it exactly but thought it may be linked with a particular gene variant known as HLA-B27.

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There is no cure but treatment usually involves exercises to reduce pain and stiffness, physiotherapy and pain-relief and anti-inflammatory drugs.

Surgery may be needed in rare cases where there are severe bends in the spine or significant joint damage. 

Chinese man with deformed spine walks again

Li first started experiencing symptoms in his late teens but was unable to get treatment because his family in rural China could not afford the medical fees.

He had to rely on his elderly mother Tang Dongchen to take care of him.

She said: "I wasn't going to give up on my son.

"I gave birth to him, so I had to try my best to find a way to make him better. Otherwise, when I die, who will look after him?"

I hadn't slept on my back for more than 20 years

Li Hua

He received surgery at the Shenzhen University General Hospital in 2020, undergoing four procedures to break and reconstruct his bones.

His surgeon Dr Tao Hurien described the operations as like "scaling Mount Everest". Now, Li has 20 pins in his neck and cannot move it.

But he is able to stand up straight and has regained a lot of movement in his body thanks to rehab after the surgeries.

He told Ergeng TV: "I'm just very happy to be able to sleep lying flat again. I hadn't slept on my back for more than 20 years.

"The first time I saw my mother after surgery, I suddenly realised how much she had aged while taking care of me all these years.

"She couldn't take care of me forever, so I wanted to cure this disease and reduce her burden.

"To me, Professor Tao is my saviour. There would've been no cure for me without him."

4

Li lived with the autoimmune disease ankylosing spondylitis for nearly 30 yearsCredit: AsiaWire

4

He is now able to stand up straight and has regained a lot of movement in his bodyCredit: AsiaWire

What is ankylosing spondylitis?

Ankylosing spondylitis (AS) is a long-term condition in which the spine and other areas of the body become inflamed.

AS tends to first develop in teenagers and young adults.

It is twice as common in men as women, according to the NHS.

The symptoms of AS can vary, but usually involve:

back pain and stiffness

pain and swelling in other parts of the body – caused by inflammation of the joints (arthritis) and inflammation where a tendon joins a bone (enthesitis)

extreme tiredness (fatigue)

These symptoms tend to develop gradually, usually over several months or years, and may come and go over time.

In some people the condition gets better with time, but for others it can get slowly worse.

There's no cure for AS and it's not possible to reverse the damage caused by the condition.

However, treatment is available to relieve the symptoms and help prevent or delay its progression.

Surgery is sometimes needed to repair significantly damaged joints or correct severe bends in the spine

How To Prevent Ankylosing Spondylitis

Ankylosing spondylitis (AS) is not preventable, but early diagnosis and treatment can help stop or slow its progression. AS is an inflammatory arthritis that primarily affects the spine, causing pain and stiffness in the lower back.

People with AS may also experience pain in their neck, shoulders, hips, and heels. Maintaining a healthy lifestyle—like exercising regularly and eating a balanced diet—can help prevent joint damage and reduce complications of AS.

Westend61 / Getty Images

AS can affect anyone. Certain people are at a higher risk, including: Age: AS symptoms often begin before age 45. Children and older adults can also develop the condition, although it's rare. Family history: People with a family history of AS are most likely to develop the disease. Medical history: People with other autoimmune disorders, such as inflammatory bowel disease (IBD) or psoriasis, are more likely to get AS than others. Sex: This type of arthritis has also been shown to be more prevalent in men than women. AS has a strong genetic component. This means if you have a parent or sibling with the condition, you have a high chance of developing AS yourself. Certain inherited genes, such as the HLA-B27 gene, may raise the risk of developing the condition. More than 90% of White people with AS have the HLA-B27 gene. The gene is less common in people of other races with AS, but it's unclear why. Having specific gene mutations is also associated with how your immune system functions. These genes include the ERAP1, IL1A, and IL23R genes. It's important to note that having an inherited gene linked to AS or having a family history of AS does not guarantee that you will develop it. Research has shown about 75% of people who inherit the HLA-B27 gene do not develop AS. Genetic testing can be a helpful tool for identifying your risk. A healthcare provider may refer you to a genetic counselor who can help you understand your test results and personal risk of AS if you have a family history. HLA-B27 Blood Test  One genetic test is the human leukocyte antigen B27 (HLA-B27) blood test, which is a simple test that checks for HLA-B27 proteins. HLA-B27 is a protein located on the surface of white blood cells. HLA genes help the immune system tell the difference between harmful pathogens (e.G., viruses and bacteria) and healthy tissues. HLA-B27 is associated with immune system dysfunction, which can cause inflammation and increase the risk of AS. You may be at an increased risk of an inflammatory autoimmune disorder if your blood test shows you have HLA-B27. Having the HLA-B27 gene means that your immune system is more likely to attack healthy tissue within your body than people who don't have this gene. Genetic Risk Scoring Genetic risk scoring (GRS) is a form of testing that involves obtaining a sample of a person's DNA, either through a blood test or a cheek swab. The goal of GRS is to look for gene mutations that are linked to different health conditions.   A polygenic risk score (PRS) can help predict your risk of developing AS. The lab technician or genetic counselor in charge of your test will analyze your DNA for gene mutations. A healthcare provider will weigh your results with how certain gene mutations influence the onset of AS symptoms. They will give you a score that estimates your overall risk of the condition. This lets you know if you're at a high risk or low risk of AS. The score can't tell you if or when you will develop AS or how the condition will progress. Researchers have not yet identified a surefire way to prevent AS. There are still several ways to help reduce your risk, from avoiding tobacco use to exercising regularly. Tobacco Use Reduction Smoking has been identified as a significant risk factor for the onset and progression of AS. People who smoke tend to receive an AS diagnosis earlier in life than those who don't smoke. You'll likely have a faster disease progression, more pain, and a lower quality of life if you smoke. Regular Exercise Regular exercise won't prevent AS, but it can help you increase strength, endurance, and flexibility. These aspects are all important for maintaining your physical functioning and reducing pain. Regular exercise can also help you maintain a healthy weight and keep your bones strong, which can improve overall health. Healthy Weight Maintenance Research has shown that being underweight or having obesity can worsen symptoms in people with AS. Obesity may also worsen treatment outcomes if you develop AS. Balanced Diet The foods you eat can help prevent or contribute to inflammation in your body. AS is an inflammatory disease. Eliminating foods that trigger inflammation can reduce the inflammation in your body. Eating a diet rich in fruits, vegetables, whole grains, and omega-3 fatty acids (e.G., salmon) may help. Don't wait for things to worsen before seeing a healthcare provider if you experience AS symptoms. Early diagnosis and treatment can help slow disease progression, reduce the risk of complications, and help you maintain a good quality of life. There's no known way to prevent AS. A combination of genetic and environmental risk factors seem to play a role in the development of the disease. Going in for genetic testing can help you understand your risk of AS. Implementing healthy lifestyle changes can prevent or delay the onset of AS symptoms. 

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