Unbelievable

When I see my doctor, he doesn’t assume that I’ve reported every symptom; he takes what I’ve reported, looks for patterns, and asks questions to try to fill in the missing pieces so he can get an accurate picture of what’s going on.  I thought all doctors were trained to do that.

Some are obviously better at it than others.  Throughout her high school years, my niece saw pediatric cardiologists and pediatric neurologists.  Now she is in her second year of college and seeing an internist.  Last week I heard that she is trying to juggle classes and doctor appointments, and they suspected Crohns.  Crohns is linked to the spondyloarthropathies.  My niece has Raynauds and symptoms of Crohns.

I emailed my niece a few links so she could read about Crohns and some of the related arthritic diseases.  She called me after reading them.  Joint pain?  Nobody ever asked her about joint pain.  She’s had joint pain since she was twelve years old!  Knees, hips, and ankles are affected, sometimes shoulders; she has long-term, bilateral joint pain.  She doesn’t think to say anything about it; nor does she make an issue of the fact that she breathes regularly.  When something is always there, you don’t think to mention it.  She just buys ibuprofen in Costco-sized bottles and tries to make the best of things.

Autoimmune diseases such as RA and JIA have a genetic component.  It amazes me when this link is ignored.  I have Raynauds and RA/USpA.  My daughter has Raynauds and ERA.  We believe that my father had undiagnosed autoimmune arthritis.  My niece has Raynauds and a variety of other health problems that could all be explained as complications of JIA.  Even without our family history, it seems like the combination of Raynauds with other symptoms linked to autoimmune diseases would make a doctor include JIA in his list of possibilities to be investigated.

After a long talk with my niece, I’m fairly sure that she would benefit from a thorough exam by a rheumatologist.  Now she needs to figure out how to track symptoms (after figuring out which symptoms to track), record what she does that makes things better or worse, any other pertinent data (without knowing what might or might not be pertinent), and respectfully present information to her doctor in a way that will make him consider whether or not she’s had undiagnosed JIA for the past eight years.

It is astonishing that no doctor has ever asked the right questions to put the pieces together.  Unbelievable.

Suggestions on what data my niece should track,
and how to artfully feed her doctor the right information
so  that he can accurately determine whether or not
she should be referred to rheumatology
would be much appreciated.
Message me if you’d prefer to remain off-the-record: warmsocks.blogquestions@gmail.com

Recognizing Arthritis in Kids

Old people can develop osteoarthritis  when the cartilage wears away at a joint, leaving no cushion between two bones.  The arthritis that kids get is very different – it’s actually an attack by the immune system and has nothing to do with the degeneration of cartilage.

The number of new cases of children diagnosed annually with arthritis is quite low.  Depending on the country doing the reporting, incidence is only 1-22 cases per 100,000 children.  This means that most doctors are not going to diagnose a new case of juvenile arthritis – it just doesn’t show up that often.

It’s important, then, for doctors – and parents searching for answers – to recognize that:

  1. kids do get arthritis, and
  2. there are different types of juvenile arthritis.

The least common type of juvenile arthritis is enthesitis, characterized by inflammation where tendons attach to the bone.  It is most commonly seen in boys aged 9-15, and is easily dismissed as growing pains.  This disease often affects large joints such as hips, shoulders, and knees; spinal involvement occurs later in the disease.  Enthesitis Related Arthritis can also include spondyloarthropathy, ankylosing spondylitis and irritable bowel disease.  Redness and swelling do not necessarily accompany the joint pain of ERA.  27% of ERA patients have uveitis, so eye exams are important.

Juvenile psoriatic arthritis can occur in children who do not have psoriasis.  This presents a challenge for the diagnostician, because skin involvement can take years to develop.  The arthritis is not necessarily symmetrical, and lab work will show a negative rheumatoid factor.

Systemic JIA was formerly called Stills Disease.  The typical SJIA patient is a young anemic child, either boy or girl, with a high fever and a rash.  Labs show elevated CRP, ESR, white count, and platelet count.  Diagnosis can be difficult because joint involvement does not necessarily occur at the same time as the initial fever and rash.  The remission rate is 60%-87%.

Affecting five or more joints in the first six months of disease, polyarticular JIA patients are at risk of uveitis.  Polyarthritis is divided into two different types:

Seropositive polyarticular JIA (blood test for rheumatoid factor is positive) usually affects adolescent girls.  Joint involvement is symmetric.  This disease is very similar to adult rheumatoid arthritis.

Seronegative polyarticular JIA (blood test for rheumatoid factor is negative) usually affects young girls and has a better prognosis than those who are RF+.

The most common type of juvenile idiopathic arthritis is oligoarticular.  Children with oligoarticular JIA are always RF negative, but about 70% have a positive ANA.  This type of JIA affects fewer than five joints during the first six months of disease.  Textbook presentation is little girls age 1-4, with a swollen (not necessarily painful) knee or ankle.

After six months, if there are still fewer than five joints affected, the diagnosis is  persistent oligoarticular JIA; this group of patients has a 75% remission rate.

If additional (5 or more) joints are affected after six months, the diagnosis is extended oligoarticular JIA; this group of patients has a 12% remission rate.

It is important to check the eyes of kids with oligoarticular JIA, because asymptomatic uveitis is a significant risk.

Undifferentiated is the JIA that refuses to be put in a box.  These kids have arthritis, but

  • don’t meet all the criteria for a specific diagnosis in one of the above-mentioned subclasses, or
  • meet the criteria for more than one subclass, but are RF+ or have a close relative with psoriasis

My daughter who took four years to be diagnosed with ERA would like to remind you that diseases don’t read textbooks.  Kids who complain of joint pain need to be followed diligently until a diagnosis is reached.

________
For further reading:

Arthritis in Children, American College of Rheumatology
Questions and Answers about Juvenile Arthritis, NIAMS
Juvenile Idiopathic Arthritis, Orphanet
Growing Pains: The ILAR Classification of Juvenile Idiopathic Arthritis, Journal of Rheumatology
Early Identification of Juvenile Idiopathic Arthritis, Musculoskeletal Network

Epidemiology

Epidemiology is the study of health and disease patterns.  What causes a specific disease?  How does it spread?  How many people are newly diagnosed in a year?  How many people are managing the disease on an ongoing basis?

Two of the statistics that epidemiologists give us are incidence and prevalence.  This topic would bore me to tears if I had to produce these statistics for a living, but when I’m researching a disease, these are numbers that I want to know.  Incidence  tells us about how many new diagnoses are made per year (or, more technically, per any given time period).  Prevalence  tells us how many people are being treated on an ongoing basis during that same time period.

Incidence – In studying rheumatoid arthritis, epidemiologists have learned that for every 100,000 adults, there are an average of 41 new cases of RA diagnosed annually.  The number of people newly diagnosed increases with age:  8.7 per 100,000 for ages 16-34, versus 54 per 100,000 for people over age 80.

Prevalence – For every 100,000 adults, there are 500-920 people dealing with RA on an ongoing basis (statistics vary depending on which diagnostic criteria are used, which country is being considered, and a few other variables).

The incidence and prevalence of other types of autoimmune arthritis varies widely1:

Click to enlarge

As you can see, the data on PsA is sub-optimal.  AS is twice as common as RA, yet isn’t nearly as well-known.  MCTD and AOSD have such a low prevalence that they are considered rare diseases by the Office of Rare Diseases of the National Institute of Health, and by Orphanet.  JIA is also listed in the rare diseases database.

Age – Age of onset varies considerably depending on the type of arthritis.  By definition, disease onset before age 16 means that it’s a subtype of Juvenile Idiopathic Arthritis.  Children who receive a diagnosis of one of the subtypes of JIA do not receive a different diagnosis as they age; the diagnosis remains JIA, even if the person lives to be 80 years old.

Click to enlarge

These are averages, not rules.  Immune systems don’t read textbooks, thus don’t know when the books say they might malfunction.

______________________
1Statistics on the incidence and prevalence of Sjogren’s Syndrome and UCTD are difficult to find.