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Old 08-06-2011, 06:09 PM   #1
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Question Positive HLA B27 and Rheumatoid Factor tests

I'm curious to get some opinions from anyone who can give me any insight regarding these tests and what it could indicate.

I have a history of flare-ups of joint pain, muscle aches and fatigue for many years. I would have elevated sed rates, but negative ANAs and no other specific antibodies. Then 2 months ago I had my worst flare-up ever - extreme, buring pain throughout my body, shooting pain radiating from my neck down my spine, joint pain and stiffness in my ankles, wrists, and across my knuckles, as well as seizure-like episodes when my pain was extreme. GP did testing that indicated an elevated sed rate (51, normal is under 20), rheumatoid factor of 25 (normal is under 13), and iron deficiency anemia. I started taking prescription iron and Aleve for the pain. Neurologist did not think my seizures were "typical", did not think it was due to epilepsy, she really had no idea what was going on. Then I saw a different rheumatologist a month into this flare-up. She noticed the swelling in my ankles, I had some stiffness in my shoulders, and when she touched my lower back and I nearly jumped off the table. She ran more tests, including a lot of repeats of what the GP ran the month before.

Everything that was positive before was positive a month later - sed rate was elevated, but down to 41, rheumatoid factor was elevated at 24, hemoglobin was low, but a bit higher than before. Chest, foot, and hand x-rays normal. ANA still negative, anti-CCP, which I understood to be more specific for RA, was negative. The only new thing is that I tested positive for the HLA B27 gene. I'm not even sure why she ran this, no one has ever run it before, but I guess it may have been because of the tenderness in my lower back. When I looked this up, I found out this was some marker that is associated with various autoimmune difficulties, specifically ankylosing spondylitis, that is most associated with inflammation and arthritis of the spine. Finally, I thought, maybe I would finally be close to a diagnosis! Especially considering I was having odd neurological episodes - it made sense to me that inflammation in my spine could lead to neurological difficulties as well.

BUT here is the problem: from what I read, the conditions associated with HLA B27 do NOT have a positive RF, by definition. And AS is most often seen in men, the gene is more common in whites, so I assume the disease affects white men more frequently - and I am a black female! I've been trying not to think about this the past week, and wait until my follow-up with the rheumatologist on Thursday, but this is just driving me crazy. If HLA B27 and RF tests are generally mutually exclusive, then what in the world could it mean if I tested positive for both?! Is it true that the HLA B27 antigen is not diagnostic to AS, although it can help confirm a diagnosis if you have symptoms?

As a black female who is positive for HLA B27, it just leaves me even more confused. I have no idea if this means: a) that because this gene and diagnoses are rarer in my gender and race, then the presence of the gene would be more significant, or b) if the presence would be so rare no one would even consider it significant. Who knows? I have had mild back pain for years, often after I wake up from sleeping, but my pain only lasts for a while in the morning and is not chronic. I am very sensitive to the touch in my lower back, and I had excruciating pain in my spine when I was in the worst of my flare-ups, often before and after the convulsions. But my most chronic, constant pain is in my ankles, my most annoying pain was in my wrists and knuckles (although that has gotten better since I've been taking Mobic), my lower back isn't even my most severe area of pain. I have developed some problems walking the past 2 weeks, but I know some of that is due to the pain in my ankles, not sure how the back pain could be affecting this.

I guess I'm just curious to find out what anyone knows about HLA B27+ diseases, and whether or not you think a positive HLA B27 could still be significant considering all of my other features that don't go along with it - the positive RF, my gender, and race. What questions should I be asking the rheumatologist at my follow-up appointment? I have never had an x-ray or MRI of my spine, is this something I should ask for? Although I doubt a spine x-ray would show anything. I would like to think that the rheumatologist would not have run the HLA B27 test if she was only going to completely ignore it, but I really don't trust most specialists these days!

 
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Old 08-07-2011, 02:38 PM   #2
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Re: Positive HLA B27 and Rheumatoid Factor tests

I think I can clear up some of your confusion.

The HLA-B27 is a genetic factor that makes you prone to not only developing Ankylosing Spondylitis but a whole group of arthritic disorders knows as the "sero-negative spondyloarthropathies". It is a group of disorders that all feature inflammation of the sacro-iliac joints on either side of the spine(sacro-iliitis) in the pelvis as well as spinal arthritis that has a very particular look to it. AS is one but Reactive Arthritis is another as is Psoriatic Arthritis and and a couple of others.

So just because they have found AS more often in white men doesn't mean it can't be found in any population. ReA is more common in males as well but PA is more common in women. But the problem with the population studies so far has been the lack of a specific test for any of them so they often go misdiagnosed. Many docs think that if they had a definitive test for those 3 disorders, you'd see it in women and blacks just as much as white males.

As for the rheumatoid factor. It's a "bad" test. 5% of the general population have a positive Ra Factor but don't have RA. That 's a huge amount of people with a positive test and no disease process. And it gets higher with age until you find that 20% of 70 year olds have a positive Ra Factor. And of the people with known Ra, 25% do not have a positive Ra Factor. It is only useful if you have other tests like the Anti-CCP to confirm RA(I have RA and am Ra Factor negative).

So it seems as if your tests are pointing toward one of the spondyloarthropathies. The good news is, they have some really good drugs to now treat them and with Reactive Arthritis(it's called Reactive as you are reacting to a previous infection) they may have found a way to cure it. Still being studied.

The rheumatologist will run all sorts of tests and then try to confirm the diagnosis with X-rays if it is the type that hits the spine. You form something called syndesmophytes on the spine. At least they can see it if the blood can't tell them what it is.

Let me know what they think it is, okay?

hugs................Jenny

 
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Old 08-08-2011, 08:42 AM   #3
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Re: Positive HLA B27 and Rheumatoid Factor tests

Thanks so much for your info, Jenny! I had no idea if anyone knew much about diseases associated with HLA B27.

I've been wanting to know what was going on with me for several years, and yet even with abnormal bloodwork, I fear that this will lead me no closer to a diagnosis because the bloodwork may not be specific enough. While I've been able to handle the minor flare-ups for several years, this last flare-up has been so much worse, because of how sick I was for the first month into the flare, especially because of the convulsions. My GP has pretty much known something autoimmune was going on with me, and she's just said that sometimes it takes a while, even getting a bit worse, before you get a diagnosis. But I don't want to get any worse! I've been on medical leave from work since this flare started in mid June, but I've got to go back to work full time next week, and I have no idea how that's going to go. This month I've been going back in for a few hours, about every other day, just to start training my body to getting back into the swing of things - and every day after I work, I have to take the next day off, because my body is so fatigued and my pain is often a bit worse. This is just sitting a desk doing paperwork, I don't know how I will handle work days when I spend 2 - 6 hours in a car driving, and taking my 2 and 3 year olds to appointments, and helping to manage our household. I will be so annoyed if all of this leads to nothing, and I'm basically told to take some more Aleve, and I'll follow-up with you in a year. I'm worried that my body won't "look" sick enough at my follow-up appointment this Thursday, because it's hard to know how I will feel from day to day. I never feel completely well, but some days are much worse than others, and all I can do is hope I'm having one of my bad days when I see the rheumatologist!

I do have another question: in order to get diagnosed with one of these conditions, do you have to have an abnormal x-ray of your spine? I don't have psoriasis and I've not suffered a major infection recently, so I would imagine psoriatic arthritis and reactive arthritis would not be diagnosed. But AS seems so specific to the spine, if my pain is not extremely severe, other when I wake up in the morning or when pressure is applied to the area, I doubt anything would show up on an x-ray. My ankles, especially my right ankle, has been in chronic pain and often swollen, yet nothing showed up in that x-ray. I need to look up more info about the sacroiliac joints (I think this is at the top of the buttocks?) because if that is the case, then that area is also painful when pressure is applied. I think I read that women tend to have less involvement of the spine, and more of other joints - but to me that would indicate that it's harder to get a diagnosis.

What really want to find out from the rheumy is if I can get some kind of treatment for the pain and inflammation - which looks like it would involve figuring out the right type of NSAID, since just Mobic is not working. But I mainly want to see if I can get on some kind of DMARD, because my big worry is that this will only get worse, and it annoys me that most people have to wait until they are very bad off to get treatment. My mom has had undiagnosed autoimmune issues for years, that she eventually turned to herbal supplents to treat when the medical community could not, and I have an aunt who had symptoms for almost 15 years before she was diagnosed with lupus, not until she developed a heart condition and near kidney failure. I refuse to let that happen to me. And I don't think one condition could explain all of my symptoms, but I think one diagnosis and DMARD treatment could possibly help a lot of symptoms from getting worse. I'm more convinced than ever that I have some type of autoimmune difficulty, it's just a matter of figuring out exactly what is going on! Since apparently there is nothing out there to just treat a dysfunctional immune system, without a specific diagnosis.

 
Old 08-08-2011, 10:17 AM   #4
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Re: Positive HLA B27 and Rheumatoid Factor tests

Hi Minerva...let me do a little reading and get back to you. This group of spondlyoarthropathies is more than those 3 so I need to read a little more. The true name for this group starts with the words "sero-negative" as one of the diagnostic features is that you don't have any positive blood work so the lack of positive test results actually is diagnostic.

And x-rays of the low spine, if they show the syndesmophytes, is also diagnostic of AS as it causes a very particular type of bone spur...one that forms bars of bone across the vertebrae.

But I want to check the other forms(can't remember them off the top of my head). Get back to you shortly...okay?

Jenny

 
Old 08-08-2011, 11:27 AM   #5
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Re: Positive HLA B27 and Rheumatoid Factor tests

Did some reading and the more I read, the more confusing it gets. Autoimmune disorders are so crazy!

Although most with AS have the HLA-B27 factor, in blacks, the more important one is HLA-B7...that tells you if is might be a familial problem. You sure seem to fit the description for AS or even Reactive Arthritis. The infection that sets off ReA is usually chlamydia or one of several types of food poisoning and it would have been way before you felt the first pains.

But the seizures concern me. As you probably know, Lupus is more prevalent in blacks and women and lupus can have seizures...can even start with seizures. And just because you have the HLA factor, doesn't mean you can't get something else.

I think your doc has some major testing to do. I know it's frustrating but let them test. It can take a while to get a correct diagnosis. And even then, they can change. Once you have one autoimmune disorder, it leaves you vulnerable to more of them. I was treated for years for severe osteoarthritis that bordered on an inflammatory disorder(AKA autoimmune). They finally agreed that I had gone over into RA and I think I did so several years earlier but like so many, I am negative for the specific blood tests although I had the high white count, high ESR and low hemoglobin and hematocrit that is standard for all with Ra. And now, I've developed Sjogrens Syndrome on top of it and they are wondering if I don't have yet another starting. And of all the frustrating things, the treatment for Ra can cause a lupus like syndrome and even make the tests for lupus go positive and even trigger the development of MS.

These disorders are very confusing.

So hang in there and see the rheumy and start the testing. It may start as one disorder and change to another. There just aren't that many tests they can do to pin point the answers, unfortunately. But if they do x-rays and find those syndesmophytes, then you have a pretty good answer. Hope you are a patient person!

Jenny

 
Old 08-08-2011, 12:48 PM   #6
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Re: Positive HLA B27 and Rheumatoid Factor tests

I appreciate all of your research Jenny! And everything you've said is why all of this is so confusing for me. I had not even read about the HLA B7 gene, which is interesting based on its significance in black populations. I don't know if that is something that will be further tested by the rheumatologist, but even if not it is something to look into if I decide to get a second opinion. Do you know if it's any type of infection that could trigger reactive arthritis? I've never had any STD and if I have had any other infections recently, it was something not causing me issues enough to go to a doctor. Then again, I've had flare-ups of symptoms for many years, but could reactive arthritis really affect me this long?

I have been concerned about the seizures as well, but the problem is that I don't know if they are true "seizures" in the sense of being caused by electrical activity in the brain. The episodes that happened to me didn't fit into a neat little category of a specific type of seizure, and when I had a normal MRI and EEG, I just don't think the neurologist considers these as actual seizures. This is why the idea of having inflammation and/or arthritis in the spine intrigued me so much, because maybe it could be one way of explaining why I had these convulsions during the worst of my pain flare-up. I even asked the rheumatologist if there are any conditions that could cause seizures (I knew Lupus was one) and she mentioned Lupus, but said that people with lupus have true seizure disorders, not severe convulsions and other odd neurological symptoms (I have a history of myoclonic jerking during previous flare-ups as well). Which all seems a bit too black/white thinking to me, but there isn't much I can do. Especially because I always have negative ANAs. I've felt for a long time that I was on the path to developing lupus, because of other symptoms I've had - elevated sed rate, pleurisy and inflammation around my heart about 9 years ago, flare-ups that tend to occur after prolonged sun exposure, and now these seizure-like episodes. But I don't have any of the skin involvement most often seen in lupus. And with a negative ANA, I can't even get further testing into other antibodies specifically associated with lupus. Positive ANAs appear to occur even more frequently than positive RFs, and when I don't even have a positive ANA, lupus is immediately taken out of consideration! I think this is why I'm just so eager to get diagnosed with SOMETHING, because I know without a positive ANA lupus is eliminated, even with the odd symptoms, even though the low titer RF can be seen in lupus and other similar connective tissue diseases. I just hoped that if I can get on some DMARD, to address the big picture of the dysfunctional immune system, then maybe it could prevent me from developing lupus, or other autoimmune diseases as well. I know, crazy isn't it?

I wish I was able to be more patient, it looks like I will need to be. I just feel like my life has been on hold since this last flare-up, and I need some answers. I've been on medical leave and have had coworkers donate sick leave to me since I drained all of that, and next week when I see everyone again, they are going to want to know some answers. I made the decision to turn down a job, making more money, that I had interviewed for about a week before this flare up, because I honestly didn't know when I would be cleared to drive again (I would be doing more driving for the new job than I do with my current one) and I didn't know if my body was going to be able to handle working a busier, somewhat more stressful job. I had plans to apply to graduate school next year, but now I'm just not sure. I hate not knowing what I can mentally and physically handle, and the longer I stay in limbo, the harder it will be for me to make decisions about further directions in my life. I've always been a very busy, independent, and probably stretched a bit too thin, so these past two months have been very hard for me emotionally - having to rely on my husband to drive me places and not being able to drive my daughters where they needed to go. I know me, and I'm not going to come to terms with having to slow down my life when no one can tell me WHY I should do so. Same reason why a month before this flare up, we took a cruise vacation and I spent more time out in the sun than I have spent in years, including all day on one of the most beautiful beaches I had ever seen. In hindsight, maybe that wasn't the best idea, because my flare-ups are often triggered by significant sun exposure, but....if I don't have lupus, why should I have done any differently? I know for a fact that part of why I've been able to feel better than I did 2 months ago is because the convulsions forced me to slow down, forced me to focus on getting better. But I can't stay in this slower pace forever - even with a diagnosis, I don't know how I would manage a slower pace, but I know I'm not going to feel the need to if a doctor tells me nothing is wrong with me. One of my friends told me it's bad enough dealing with being sick when you know what's wrong with you, it's even worse dealing with it when you have no idea what's wrong with you. So....I don't know how much patience I have, or even the energy to look into a second opinion with a rheumatologist or neurologist if neither of these has any answers. I want to have the energy and the patience, but I just don't know. I don't know anything right now!

 
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Old 08-08-2011, 02:42 PM   #7
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Re: Positive HLA B27 and Rheumatoid Factor tests

I know that frustration so well. I knew for years I was developing something autoimmune but without the blood tests to confirm it, I had to wait until I had the bone changes that confirmed Ra.

If you want to do some research on Reactive Arthritis, try searching for "Reiter's Syndrome"...the old name. I can't recall the 3 types of food poisoning that can trigger it but Shigela was one of them. And yes, it can develop slowly.

I suspect your doc will start with x-rays of your joints and if necessary, ask about doing an MRI on your sacroiliac joints...that may confirm AS. I was suspected of having AS and the MRI actually told them it wasn't. An MRI of my wrist ended up confirming Ra instead.

I do have major spine problems but they are all osteoarthritis. Spinal arthritis can do a lot of things to you. If you have it in your neck, it can block the flow of cerebro-spinal fluid to the brain and give you major headaches...haven't heard of it causing any kind of seizures from it though. But many say it feels like a migraine syndrome. I've had 2 major cervical spine surgeries and and may be heading for a third so I know how badly a bad spine can hurt. There is no rule that says you can't have more than 1 type of arthritis at the same time(unfortunately).

Can you tell me more about what these seizures are like and what brings them on?

Jenny

 
Old 08-09-2011, 07:04 PM   #8
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Re: Positive HLA B27 and Rheumatoid Factor tests

Sorry I'm just getting back to you - today was a rough pain and fatigue day for me.

I'm really not sure exactly what provokes the seizure-like episodes, but they are always preceded by an odd, tingling, burning sensation going through my entire body, shooting pain going from the back of my neck down my spine, all over pain, and sometimes fatigue. I have a history of migraines with auras, although I rarely have migraines now, but the seizures always had an aura with them as well. Usually I would get somewhat dizzy, a little nauseous, extremely sensitive to sound, have bad mood swings, and those shooting pains going through my body. Ironically, I would never get a headache, at least until after the episodes were over. These auras would last anywhere from about 5 minutes to about 30 minutes, although when I had my first episode I was in extreme pain and disorientation for about 5 hours before the apparent seizure started. I did have a few myoclonic jerks (very quick, single body jerks) which is why I figured this was the start of a bad flare-up. So I would know something was coming, but no matter what I did, I could not stop it from eventually happening. Then at some point I would collapse to the floor and have convulsions, lasting anywhere from about 15 to 60 seconds, from what I've been told. I don't think I ever became unconscious during the episodes, because I was aware something was happening, but I didn't know what was happening, I was unresponsive during the episode, and I have no memory of the actual convulsions. My husband saw many of these episodes, but a lot of them also happened when I was alone, so I only remember how I felt before and afterwards.

I was told that sometimes the convulsions would primarily involve one or two limbs shaking, often my left arm and one of my legs, although sometimes it was all of my limbs. I usually woke up on my stomach, although I don't know if the convulsions started on my stomach. And after the episodes were over, I would be extremely fatigued, have a headache, be in a lot of pain, and usually could not physically move for at least 5 minutes. On a few occasions I actually had some temporary paralysis of my legs afterwards, that lasted as short as 5 minutes on one occasion to about 30 minutes another occasion. And after the 30 minutes of paralysis I had mild numbness in my legs for the rest of the day and briefly after I woke up the next morning. I almost always fell into a deep sleep after the episodes as well. The first week I was having about one episode a day, then in the 2nd and 3rd weeks I was having 2 episodes a day, one time I had 3 in one day. But after about 3 weeks the episodes started becoming less and less severe, then for a few days I would just have episodes of myoclonic jerks, and then even the myoclonic jerks stopped. In my opinion, all of this was completely tied to my pain. When I had these seizures, I was in constant, all over body pain, and my body was sensitive to the touch, all over - I could not have a child climb into my lap or even grab my arm without being in horrible pain. I was still having joint pain, mainly in my wrists, knuckles, and ankles, but it was nowhere near as bad as the burning sensation throughout my body. Once the episodes stopped, my pain became less generalized and more focalized to my joints. So it's hard to know if my joints feel worse now than they did 2 months ago, or if it's just that while I was having these episodes I was in so much pain that the joint pain just wasn't as noticeable. I do feel my ankles have definitely gotten worse, though.

Where these true seizures or not? I have no idea. The research I did on seizures and the types was so vast it was overwhelming, I still don't have a handle on all of the types. The closest thing to what I experienced were partial seizures, I think, but there are simple partials and complex partials, and that's where I start to get a bit confused. And I mainly looked into partial seizures because of the auras, but it seemed as though the auras represented the actual seizures. I think I was only able to find a few mentions of simple partial motor seizures, that also involved convulsions.

Almost all of the research I've done on non-epileptic seizures seem to center on these resulting from some repressed psychological trauma, and I personally think that is a bunch of crap - just another case of we can't explain what it is, so let's say it's psychological. Not to say that can't be true for some people, but I take offense to it because any emotional difficulties I've had in my past I have dealt with through counseling and/or medication, if needed, healed, gained strength from my experiences and moved on - there cannot be ANYTHING in my life that I have repressed! I could buy into stress as a trigger, because I know my life can be stressful, but not repressed trauma. I might even consider that the extreme pain caused so much stress on my body that these episodes occurred - but the issue is not repressed trauma, it is the current pain. I have found one or two people actually break non-epileptic seizures down into those caused by physical reasons vs. psychological reasons, and based on the severity of these episodes corresponding to my pain, I feel the origin has something to do with pain and inflammation, especially considering this was the time when I had a lot of excruciating pain radiating from my neck down my spine. My sed rate at the time was at 51, and I have never had a sed rate that high - in my previous flare-ups my sed rates were always in the 30 - 39 range - but this flare was also the a time when I was in the worst pain in my life. And maybe the anemia played a role in these episodes too, if it were affecting oxygen going to my brain - however no one has mentioned that as a possibility, I'm just guessing.

So, I know something neurologically is going on with me, and since I started having myoclonic jerks during flare ups about 4 years ago, there has always been some neurological component to these flares. But like everything else with me, it's not clear cut. However it is the neurological symptoms that scare me more than the arthritis. I do not want to accept that I have to wait for my arthritis to get worse before I get treatment, but I CANNOT let my neurological symptoms get worse, just for the sake of a "clearer" diagnosis. I've only had about 2 episodes of myoclonic jerks over the past month, I never want to get as sick as I was when I was when this flare-up first started and I was having 2 seizure episodes a day. I do strongly feel that getting the rheumatic issues under control will help the neurological issues, because they seem to go hand in hand.

Hope that is helpful - let me know if you have any more questions!

 
Old 08-12-2011, 06:41 PM   #9
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Re: Positive HLA B27 and Rheumatoid Factor tests

Just to update about my appointment: The rheumatologist didn't really discount either of the tests, she really didn't address how some of the diseases associated with HLA B27 are RF negative, I honestly think that would have just been too confusing. Since she talked about how there could be multiple issues going on, and not just one disease that explains all of my symptoms, I guess that is the best way to wrap your mind around the conflicting bloodwork.

I did have an x-ray of my spine and SI joints and that was all normal, so an AS diagnosis is out I assume. I'm scheduled to have an MRI of my right ankle, because that's the joint that has given me the most trouble, and she said this could determine if there is inflammation of my ankle. I guess she is trying hard to get some confirmation that I have some kind of inflammatory arthritis, but I am not even seeing the point in it all anymore. Especially now that my left ankle has been hurting almost as much as my right ankle, but neither of them are in the extreme pain they were a week ago. I do still have pain in my right heel, but would any of that even be indicated on an MRI? I guess I'm not really sure what an MRI will really do, it just seems like an expensive waste of time. I'm really not sure if I even want to take on the expense of having one done - my out of pocket costs for an MRI are pretty big, even after insurance. She mentioned the possibility of pursuing an MRI of my spine if the x-ray didn't show anything, but there is no way I can afford that any time soon.

I have a follow-up appointment in 6 weeks, and the rheumatologist said that if all of this testing comes back normal, then she will continue to follow me, and the goal for now is to find an NSAID that will work best for all of my symptoms. I got a prescription for Indocin, which she warned is a bit rough on the stomach, but she felt may work better than the Mobic I've been taking. She will not consider a DMARD unless I am diagnosed with a specific disease, because of the side effect associated with those drugs. And it doesn't look like I'll be diagnosed with anything any time soon. So, I guess I've progressed further than I was a few years ago, when the previous rheumatologist felt I was just wasting his time - I do feel this rheumatologist knows something is wrong with me and I give her credit for seriously pursuing my symptoms. But she said it's not easy to figure out these types of rheumatic diseases, and that sometimes it takes a while. Which is code for, "I have to wait to get worse". Blah.

I guess I don't really know how to feel. I'm just really depressed that with all of the symptoms I've had, I'm still no closer to a diagnosis. Although I've been pretty depressed during this whole flare-up anyhow. I hope the time I've had off of work will be enough, because I'll be moving forward with getting back into my busy life in about a week, and all I can do at this point is just hope I can handle it all.

 
Old 06-13-2012, 10:06 PM   #10
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Re: Positive HLA B27 and Rheumatoid Factor tests

HLA-B27 is a gene commonly found in people who have autoimmune diseases. My docs always ask then just nod when I tell them I have the gene. Nothing we can do about it. Just a gene.

 
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