Seronegative Spondyloarthropathy (HLA-B27 +ve, RF ANA -ve) – Diagnosis and Management

Q: Hello and good day. Sorry this is a bit lengthy. I am a 28 year old female. I’ve been having a problem with all of my joints for the past 4 and a half years. I never had a child. I have been to so many doctors. All the tests came back inconclusive of a diagnosis. Rheumatologist ordered a complete urine analysis and it showed great volumes of calcium oxalate. This explained the cloudiness when I urinate.  Now I have been seeing a bone surgeon, who does not think it’s serious because MRI results were normal.  He has recommended a physiotherapist. I have only been to 4 sessions. I have gotten worse as a result.
My symptoms include a severe rush of cutting pain in the joints. It is as if there is a sharp piece of bone cutting through the flesh. Then with this pain, comes instant immobility. There is a feeling as if something is going to snap or break. Also I have a lot of cracks and pops in the joints, mainly in the hips. The spine got swollen in the middle of my back a few times. I get severe muscle spasms in the toes when they stay in water for some time, or when I wear certain slippers. I can barely move around.
Few months ago, a different rheumatology and lupus expert diagnosed me with seronegative spondyloarthropathy. After a month, I went back for a follow-up. She then gave me another full body examination. She was then concerned that I had fibromyalgia. But she thinks something else may also be wrong, not ruling out seronegative spondyloarthropathy. She mentioned that the problem may be in my lumbar spine. She also sent me to a spine doctor for examination of my x-rays. She took me off of the anti-inflammatory medications since they were not working.
To this day, I have so much pain. I have to use a walking stick to balance myself and to climb stairs. I still experience frequent muscle spasms all over the body. I feel a swelling in the muscles between my collar bone and shoulder, and at the upper-middle part of my spine. This makes it very difficult to bend over and move around without a pinching pain. I don’t have the means to see a doctor now, as the expenses are too much.
What could be going on with me health, and could the doctor be correct with her diagnosis? Lupus has been ruled out and thyroid seemed to be normal. Recently after going to the clinic for newer symptoms, electromyography test was suggested. At that time, my report showed two times elevation of CPK in the blood. Still, I am experiencing some pain in my chest muscles and rib cage on the left side. It aggravates on deep breathing. Sometimes it feels like my chest is too tight.
I don’t suffer from stress or anxiety. I also have a chronic dryness in both ears. Sometimes I feel sharp spot pain in bottom of left foot. I have a recurrent pulse-like pressure inside my right nostril. I don’t have a cold or stuffy nose. The nasal pressure lasts about 10 seconds at a time. It has been this way for a couple of weeks now. Sometimes I get such a heavy pressure in my head, especially when I lay down on my stomach, that I have to quickly sit upright. I went to the doctors about these, but it didn’t help so far. I need some advice. Thank you.
-By Sal
Reply
The overall picture you gave about your illness is suggestive of spondyloarthropathy.

What Is Seronegative Spondyloarthropathy?

In the broadest sense, the term spondyloarthropathy includes joint involvement of vertebral column from any type of joint disease, including rheumatoid arthritis and osteoarthritis.  But the term seronegative  spondyloarthropathy is often used for a specific group of disorders with certain common features.  You can group yourself under this seronegative spondylarthropathies. Typically, patients of this group have an increased incidence of HLA-B27, as well as negative rheumatoid factor and anti-nuclear antibodies (ANA).
Seronegative spondyloarthropathy can further be of various types, such as ankylosing spondylitis,  psoriatic arthritis with associated skin problems, spondylitis with associated inflammatory bowel or Crohn’s disease and reactive arthritis.

How to Diagnose Seronegative Spondyloarthropathy?

The presence of following characteristic features helps concluding a diagnosis:

  • Asymmetric peripheral arthritis (which serves as an important distinguishing factor with rheumatoid arthritis) is present. Any joint big or small can be affected.
  • Lower back pain is the most common clinical presentation. This back pain is unique because it decreases with activity.
  • There is a relation to HLA-B27.
  • Inflammatory arthritis, generally sacroiliitis (hip girdle) and spondylitis (lumbar spine) is often there.
  • Enthesitis (inflammation of the sites where tendons or ligaments insert into the bone) is there. For example, joints of the ribs. Patient feels pain on chest expansion.
  • The disease condition often runs in the family.
  • Rheumatoid factor is not present. Blood test for RF and ANA is negative.
  • Extra-articular features, such as involvement of eyes, skin and genitourinary tract may be found.
  • ESR and other acute-phase reactants (eg, C-reactive protein) are inconsistently elevated in patients in patients with active disease.
Diagnosis is confirmed by a rheumatologist after examination and blood work, showing negative RF and ANA. Increased ESR and other acute-phase reactants. Presence of HLA B-27 may or may not be confirmed. Long standing ankylosing spondylitis may also lead to the fusion of vertebrae known as bamboo spine.

Treatment

  1. Medications to reduce pain and suppress joint inflammation and muscle spasm are the first to be given. They increase the range of motion, which facilitates exercise and prevents contractures. Most NSAIDs do work and tolerance and toxicity towards them dictate the drug choice.
  2. The daily dose of NSAIDs should be as low as possible, but maximum doses may be needed with active disease. Drug withdrawal should be attempted only slowly, after systemic and joint signs of active disease have been suppressed for several months.
  3. Another drug called sulfasalazine may help reduce peripheral joint inflammation. Dosage should be started at 500 mg/day and increased by 500 mg/day at 1-wk intervals to 1 to 1.5 g bid maintenance.
  4. Methotrexate is another drug which has to be given judiciously, but is quite effective in this illness.
  5. Systemic corticosteroids are sometimes used. Intra-articular depot corticosteroids may be given, particularly when one or two peripheral joints are more severely inflamed than others; like injecting corticosteroids into the sacroiliac joints (hip girdle).
Treatment differs from case to case. All you need is an expert rheumatologist.

Role of Physiotherapy

For proper posture and joint motion, daily exercise and other supportive measures (eg, postural training, therapeutic exercise) are vital to strengthen muscle groups that oppose the direction of potential deformities (ie, the extensor rather than flexor muscles).
  • Reading while lying prone and pushing up on the elbows or pillows and thus extending the back may help keep the back flexible.
  • Because chest wall motion can be restricted, which impairs lung function, cigarette smoking, which also impairs lung function, is strongly discouraged.
  • Heat may be used for stiffness, including hot baths and warm showers.
  • Ice packs can be put over swellings.
  • Some patients feel comfort with gentle massage therapy.
  • Electrical stimulators are tried for pain (TENS or TNS units).
  • Losing weight to lessen stress on joints usually help.
Take Care,
Buddy M.D.