Sep 24, 2012

What a POTS patient should know about Sjogren's Syndrome

I have POTS as a result of autonomic neuropathy that is caused by an autoimmune disease, Sjogren's Syndrome.  Not everyone with Sjogren's developed POTS, and not everyone with POTS has it because of Sjogren's.  However, there do seem to be quite a few people who have POTS caused by an underlying autoimmune disease.  I have met over 50 POTS patients who have Sjogren's Syndrome and I have been asked by hundreds of other POTS patient how they can get tested for Sjogren's. These are important things you should discuss with your doctor, but here is some info that you may find helpful.

First things first, do I have neuropathy?
As a POTS patient, I would only worry about Sjogren's as a possible underlying cause if you have neuropathy.  About 50% of POTS patients have a partial autonomic neuropathy according to multiple studies conducted by Mayo Clinic.  The autonomic neuropathy seen in POTS is often seen in the peripheral small fiber autonomic nerves.  These nerves are closely associated with small fiber sensory nerves.

Sometimes, the small fiber sensory neuropathy is much easier to diagnose than autonomic neuropathy.  This is because sensory neuropathy has easy to recognize symptoms like burning, tingling, creepy crawly, stinging or stabbing pains in the feet, sometimes extending to the lower legs and hands.  In some people, this pain is worse at night.  Sometimes sensory neuropathy also causes numbness.  However, not everyone who has sensory small fiber neuropathy notices numbness or pain.

How can I get tested for neuropathy?
If you have any of these pain or numbness type symptoms neuropathy, as many POTS patients do, you may want to ask your doctor to give you a physical exam to check for sensory small fiber neuropathy.  You should also ask your doctor to examine you for autonomic neuropathy.  Most doctors will try to send you to an autonomic specialty center to get this done.  It's great if you can get there, but if not, do not fret.

Any doctor can order a simple skin biopsy kit to test your small fiber nerves for sensory or autonomic neuropathy.  There is a company called Therapath based out of New York City.  They are very legitimate and are associated with highly respected neurologists and pathologists at the finest research/teaching hospitals in New York City.  There website contains a plethora of useful information, such as:
an overview of small fiber neuropathy (sensory and autonomic) and it's common causes;
a great explanation of the Sweat Gland Nerve Fiber Density test, that looks for small fiber sensory and autonomic neuropathy;
a "how to" for medical professionals, on how to take the skin biopsy sample; and
Information on how to order the test kit.

I have neuropathy, so now what?
If your doctor determines that you have some form of neuropathy, you should then ask "WHY?"  Many doctors are quick to tell the young POTS patient that their neuropathy is "idiopathic," meaning of an unknown origin.  While it is true that we can't always determine the root cause of neuropathy, it is wrong to label it "idiopathic" until a thorough investigation has been made, to rule out the known causes of neuropathy.  There are many, many different conditions that can cause neuropathy. Some of them are discussed on my prior post, "What Causes Autonomic Neuropathy?"  Also, even if your doctors can't figure out the cause of your neuropathy right away, it is common to figure it out within a few years of getting diagnosed.  Sometimes new symptoms arise, or the neuropathy progresses in a certain pattern than indicates a particular cause.  Just because they can't figure it out right away, doesn't mean you should lose all hope in figuring out the root cause.

Wasn't this a blog post about Sjogren's?
Yes, now we get to the part about Sjogren's Syndrome.  A good neurologist will test for many different things to try to get the root of your sensory and/or autonomic neuropathy.  One of those things should be Sjogren's.  Sjogren's is the second most common autoimmune disease in the world, right behind rheumatoid arthritis.  It impacts an estimated 4 million people in the US, however about 75% of those people remain undiagnosed.  On average, it takes 9 years from the onset of symptoms to the time of diagnoses. This is because physicians are not very well educated on how to diagnose Sjogren's.  Interestingly, Sjogren's is female predominant, just like POTS.  About 80-90% of Sjogren's patients are female.  About half of all Sjogren's patients show signs of autonomic dysfunction (lightheadedness upon standing, fainting, GI motility problems, etc.).  And more than half of the Sjogren's population has neuropathy of some sort.

Sjogren's is a systemic autoimmune disease.  It can impact any system and any organ in the body, from your toe nails to your brain.  The most common symptoms of Sjogren's are fatigue, joint pain, muscle pains, dry eyes or mouth, trouble swallowing.  However, each patient is unique, and not everyone who has Sjogren's has these symptoms.  Sjogren's is the result of an overactive immune system.  The pathology of Sjogren's if far to complex to explain in a blog post, but put simply, in Sjogren's, some of your B-lymphocytes produced in the bone marrow get programmed incorrectly.  The B-lymphocytes stick around too long in the body, and then they do two things.  First, they start producing naughty antibodies that can damage your organs.  Then the B-lymphocytes, instead of recycling themselves like they are supposed to, stick around too long in the body and begin to invade tissues where they don't belong, like your salivary glands, GI tract, blood vessels, spinal cord, joints, etc.

Common misunderstandings about Sjogren's:
You have to be older to get Sjogren's - WRONG!
Many doctors think Sjogren's only impacts post-menopausal women.  While the average age of diagnosis is in the mid 40s, there are many, many younger people with Sjogren's.  I am one on of them.  I had an acute onset of neurological symptoms at age 31, but looking back at my medical history, it seems that I have been having mild symptoms of Sjogren's since about 3rd grade.  There are journal articles discussing pediatric Sjogren's, and how it tends to present a little differently in younger patients, with the dryness symptoms being less severe and the neurological symptoms being more severe at the onset.

You can rule out Sjogren's with an antibody blood test - WRONG!
Many doctors use the ANA, SS-A and SS-B blood tests to diagnose Sjogren's, and if a patient is negative or normal on those test, they will tell the patient they do not have Sjogren's.  This is flat our wrong.  You cannot rule out Sjogren's with a blood test.  The current research on Sjogren's shows that less than 30% of Sjogren's patients have the SS-A or SS-B antibodies.  If we only used blood tests to diagnose Sjogren's, we would miss about 70% of the people who actually have it.  It is likely that there are other antibodies associated with Sjogren's that haven't been identified yet.  In fact, there is evidence that alpha-fodrin antibody may be associated with some of the neurological damage Sjogren's causes, but that test is not commercially available in the US yet.  Additionally, there is something called seronegative Sjogren's.  The medical literature on Sjogren's notes that the SS-A or SS-B antibodies may never form, and may actually come later in the disease in some patients. There are also other antibodies involved with Sjogren's, like the

There is also data indicating that many Sjogren's patients present with small fiber sensory neuropathy as the first obvious symptoms of the disease (and as we discussed earlier, autonomic neuropathy is commonly associated with sensory neuropathy).  Being that neurological symptoms may come first, antibodies may come later, or never at all, and the average patient takes 9 years to get diagnosed, I think that many POTS patients with neuropathy might actually have undiagnosed Sjogren's.  I think doctors are missing the boat on this, because the average 20 something year old POTS patient who doesn't have any abnormal antibodies, doesn't fit into the mold of the 60 year old lady with antibodies they think of when they think of Sjogren's.

You have to have dryness -WRONG!
Doctors always associate Sjogren's with severe dryness.  Yes, dryness of the eyes, mouth, skin or vaginal areas are considered hallmark signs of Sjogren's.  However, you do not have to have severe dryness to have Sjogren's.  And, if you don't think you have dryness, you might actually be a little drier than normal, and not realize it because that is the way you have always been, or because it is so mild.  I would be a good example of this.  I have very mild dry eye, so mild, that I didn't even notice it until my eye doctor tested me for it.  I never would have complained about dry eye as a symptom, because my eyes weren't bothering me.  The only hint I had, was that after wearing contacts for 15 years, I had to switch to glasses - and that happened 2 years before the acute onset of my POTS symptoms.  I just assumed that the contacts were bothering me after wearing them for so long, because contacts can scratch up your eyes a little bit.  I also thought it was from reading to much at work and putting strain on my eyes.  Nope, it was Sjogren's doing it's thing before I even realized there was a problem.  Likewise, I don't have any dryness in my girly parts, and I don't have any dryness in my mouth.  The only thing I notice about my mouth is that, if I sleep with my mouth open at night, I tend to wake up with cotton mouth.  That's pretty normal and plenty of people who don't have Sjogren's do that while sleeping too.  My point is, you don't have to have severe or any obvious dryness to have Sjogren's.  My rheumatologist, who is one of the world's best Sjogren's experts here in New York, told me that the dryness from Sjogren's can develop over time as the disease progresses.  Rather than waiting for it to happen, I am on a preventative medication regime.

So how can you rule out Sjogren's?
After having had every test in the book, here is what I would do.  I am not a doctor, and you are going to have to talk to your doctor about all of this, since there aren't tests you can do on your own.  You may want to show your doctor the latest diagnostic guidelines for Sjogren's, as of April 2012. from the American College of Rheumatology. Many doctors still rely on the prior guidelines, which are also known as the American European Consensus Classification Criteria.

1. Identify any relevant family history.  Do you have any relatives with Sjogren's?  Do you have any relatives with other autoimmune diseases?  Do you have any relatives with thyroid problems or Raynaud's or unexplained neuropathy?  Sjogren's is not directly inherited, but autoimmune diseases as a whole tend to run in families and it is common if you have Sjogren's, to have another relative with it.  However, you still could have an autoimmune diseases if there is no family history.  You could be the first one to screw up the gene pool, or, more likely, someone in your family in the past did have an autoimmune disease, but back in the old days the medical knowledge was sparse that people didn't get accurately diagnosed.  You dear old great granny Elma who had horrible teeth and lots of rashes may have had Sjogren's or some other autoimmune disease, but they didn't have a name for it back then, and the definitely didn't have any effective treatments for it.

2. Get the antibody blood tests.  For Sjogren's, that usually means ANA, SS-A, SS-B.  Other markers in inflammation that are not antibodies include Sed Rate, C-Reactive Protein, and complement levels (C3, C4, C5, etc.).  Even if all of these come back normal, it doesn't rule out Sjogren's or anything else. They are only helpful if they come back super positive.  If you have an extremely elevated SS-A and lots of clinical symptoms, then you probably have Sjogren's and don't have to go on for further testing.  If the antibody testing does not confirm Sjogren's, proceed to the next step.

3. Tear and saliva flow testing.  Most commonly, the Shirmer tear test or the Lysamine Green eye drop test can be performed by your eye doctor. This can reveal dryness that you may not even notice on a daily basis.  You can have salivary flow measured a number of different ways, including a scan of your largest salivary gland, the parotid gland, using a radiotracer.  Even if these tests are normal, that still doesn't rule out Sjogren's.  Proceed to the next step.

4. Get a minor salivary gland lip biopsy.  This is considered the gold standard test for diagnosing Sjogren's Syndrome.  If you have neuropathy and POTS, do not let your doctor's "rule out Sjogren's" until you have had this test.  Doctors are reluctant to order it because it is invasive.  However, if you are like me, you are so sick that a little biopsy poke on your inner lip is well worth it to diagnose or rule out a serious autoimmune disease that could be causing your symptoms.  If I was feeling great and not sick, then I wouldn't want a biopsy, but when times are tough, you have to do whatever it takes to get yourself figured out.  For me, the biopsy was done under sedation, only because I was getting a stomach fat biopsy to rule out amyloidosis at the same time (that's another blog post...), and that biopsy is deeper, so they sedated me.  Many people can do the minor salivary gland lip biopsy with just a little novocaine or lidocaine injection in the mouth.   The wound felt like a bad canker sore for about a week or two.  It was tolerable.  I was able to eat and talk.  If it really bothered me, I would spray some sort throat numbing spray on it, like Chloroseptic.  I had a fat lip for a few days, and then a little puffiness.  But it went away in a few weeks.  I also had a small numb spot on my inner lip where the biopsy was taken from.  This is because there are many sensory nerves in your lip.  That healed over time, because the nerves can grow back.  There is no visible scar left from my lip biopsy.

The reason this test is used to diagnosed Sjogren's, is because it shows whether or not your lymphocytes (white blood cells) are invading your salivary glands.  That is one of the ways in which Sjogren's attacks the body - misbehaving lymphocytes infiltrate into tissues where they don't belong, like your salivary glands, tear glands, blood vessels, nerve fibers, etc.

If you have this biopsy done, you may want to have two separate pathologists from different hospitals interpret the slides, and you want both of them to be pathologists who have experience diagnosing Sjogren's.

I know this is a long post, but this is fairly complex stuff.  I hope this info is helpful to some of my readers.  If any of you are diagnosed with Sjogren's in addition to your POTS, please let me know.  I am keeping track of how many of us have Sjogren's.  Once we have a large enough group, I'd like to show it to the POTS researchers keep in touch with.  My gut instinct is telling me that there are more of us POTSies with undiagnosed Sjogren's than they anyone realizes.  I would like Sjogren's screening to be standard for all POTS patients.

Leaving a systemic lifelong disease like Sjogren's untreated could lead to dire consequences, but treating it early and aggressively can prevent problems down the road. You know the old saying... an ounce of prevention is worth a pound of cure.

1 comment:

  1. i have sjogrens. the only med prescribed was pilocarpine. i have dryness everywhere and extreme fatigue. please inform me of the preventative measures being taken. what meds are you on? thanks, rose.