ANA 1:640, Neg ENA - Please Help!

I am hoping that somebody can point me in the right direction. For the past four years I have been sick without a diagnosis.

- excessive sleeping (12-14 hours)
- overall feeling of illness *malaise*
- hair loss
- fatigue and body aches (intermittent)
- aphasia (difficulty finding words)
- difficulty concentrating
- headaches
- frequent colds, sinus problems

Positive Autoimmune Tests
ANA 1:160 (homogenous) - 2009
ANA 1:320 (speckled) - 2010
ANA 1:640 (speckled) 2011

Negative Autoimmune Results:
-Anti-phospholipids
-ENA panel
-TPO, TG (thyroid)
- anti-dsDNA

In 2009, TSH started climbing upward, it is now controlled by Synthroid. Dr. suspected Hashimoto's, but thyroid anti-autobodies were negative.

Ferritin is consistently low, despite use of supplements.

IgM - slightly low

Glucose - 4.2

Sleep study: mild sleep apnea, good oxygen saturation.

Cardiac study: mild tricuspid regurgitation, no need for follow up

Brain CT: mild frontal atrophy, unexpected for age, otherwise normal

Brain MRI: cerebellar tonsils 4mm, normal sinuses

Chest x-ray: unremarkable

As you can see, I've been well evaluated. Nothing stands out.

In the meantime, I've had to take a leave from my graduate degree studies, as I cannot focus and have difficulty writing.

Some days when I exercise, I feel fine, other times - like a truck hit me. It is random.

I feel sleepy constantly. (despite wearing a dental appliance for apnea).

Can anyone think of anything I might be missing?

Thank you!

Report post

19 replies. Join the discussion

Hi parisflower,
Im so sorry to hear that you have had to leave your studies, and that you have been feeling so poorly.

well you had a positive ana which indicates an autoimmune problem, (ANA= Anti nuclear antibody, so you have antibodies attacking your' body tissue). There problems sound like they flare and then remit, which is typical of this kind of illness. Unfortunately the lab results are notorious for not always reflecting disease activity. It can take years to diagnose these illnesses, not least because they all start out remarkably similar, and often overlap too.So it takes a while for symptoms to become discrete and meet diagnostic criteria. The excessive sleeping and profound fatique along with flare ups of pain is also characteristic of autoimmune illness. People rarely test positive for ANA s without a reason. The hair loss is most typical with lupus, but can also go with RA and sjogrens too. Also the neuro symptoms are lupus like, but can happen with sjogrens, amongst other illnesses. Do you have dry eyes, nose mouth? Sinusitis often goes with sjogrens, which is similar to lupus in a lot of ways, except the main symptoms are seen in mucus membranes and secreting ones, like the eyes and mouth. Sjogrens can also cause neuro symptoms, as does lupus.

yes you have had some extensive tests, but the illness does not remain static and it is therefore important that you are monitored regularly. Did you have rheumatoid factor and sjogrens antibodies screened yet? Also your' ana is steadily climbing, which suggests that also needs monitoring. Another useful but not infallible test is ESR, which measures inflamation in your body, but in my experience does not always reflect how Im feeling!

if your doc tries to dismiss you in any way, just reiterate the symptoms, the positive ana, and explain that you want to know why you are periodically ill, and that at the least it needs to be monitored.

keep us informed and good luck!
Best wishesxx

Report post

Hello parisflower. I don't have any medical suggestions for you but I can empathize with your frustration of being sick constantly with no answers. Have you had a full workup with a Rheumatologist?

I hope you can get some answers and help soon. My prayers are with you.

Lori

Report post

sounds like Lupus

Report post

Thank you all for your replies. After years of being told that this is 'all in my head', I appreciate your support and suggestions that there may be a 'real' basis for how I'm feeling.

Just to clarify a few details, I have seen three Internal Medicine Specialists (Canada)

1. "No autoimmune disease, you have depression"

2. "No autoimmune disease, you have fibromyalgia" (after saying she didn't believe FM was real)

3. "No autoimmune disease, try eating gluten free, and just get on with your life".

I have been tested for ESR, CRP, RA, but these and all other markers of inflammation come back negative.
They all told me that it is unlikely to be Lupus as I don't test positive for anti-dsDNA or other usual anti-autobodies.

I am tired of being told I'm not sick when clearly I am. Sometimes I am so frustrated with medicine. Don't they understand that NO ONE would choose to live this way on purpose??

Thanks for your kind comments.
PF

Report post

Hi again parisflower,

Ive seen my rheumy today. I had a high positive rheumatoid factor back in august when I started to be poorly from joint pain, and my wrists and ankles were swollen - not hugely, but enough. I was diagnosed with rheumatoid arthritis. I was treated with hydroxychloroquine.It has damaged my eyes. My joint pain got worse, I couldn't walk properly today due to pain and stiffness in my hips.

My ESR has come down, and the rheumatoid factor has been negative in the last two batches of tests, yet i feel worse! My rheumy has decided I have fibromyalgia and not RA. I asked why I had such a high positive test, she claimed I inherited the rheumatoid from my mother, who died of the illness two years ago. I explained that my mother was seronegative - she never tested positive for the factor, but was diagnosed using x rays of joint erosions in her hips. The rheumy then said some people just test positive without being ill. Usually people over 60! Im 48. and usually it isnt so high.

Ive just had secondary raynauds confirmed, but my rheumy has not got the report from another hospital yet. I asked her what the raynauds could be secondary to, and she said "another connective tissue illness". But she just disregarded that info as she hasnt got the results in front of her....I also mentioned the dry eyes and mouth - my opthalmologist diagnosed sjogrens as my eyes were very dry. The rheumy said I dont have the antibodies therefore i dont have sjogrens. I explained that some people dont test positive for those two antibodies, but sometimes have a positive rheum factor.... - I know that this is true having done some research.

Im back there in september, but wont hold my breath. I have pain stiffness and swelling in most joints, but she only examined my fingers and claimed that the swelling was slight, and not the kind that happens with RA, that I dont know what it is that she looks for.

I know I have secondary raynauds, which is objectively confirmed. The sjogrens is objectively confirmed by measurement of eye dryness by an eye specialist. I know I have stiff and painful joints and mobility problems. I know my mother, her brother and sister and father all have RA. Hmmm. Wonder what could possibly nbe wrong with me!? I explained that I knew that negative tests do not mean no illness, as she tried to tell me that negative bloods mean no illness. But the rheum factor was not negative, and if Im a person that randomly tests positive, it would be a low and consistent positive ...


Im really upset about how she spoke to me, wouldnt listen to my symptoms and talked over me. She refused to take my account into consideration at all. Even the results of the thermal imaging for the raynauds - my word aint good enough! Its as if she thought I was fishing for diagnosis of some prize designer connective tissue illness! Dear lord where do these people come from??

I know how you feel, and really empathise.These ignorant doctors dont get that illness does not read text books, nor do they understand that in telling us we are not ill, they are negating our experience. You know that you are ill. I know that I am also ill. I guess the only choice we have is to sit tight and wait for something to finally show up.

Im going to ask for a re referral elsewhere if I get no further in september.

Good luck and keep us informed how you are getting on.xx

Report post

Have you had a coeliac panel done? Coeliac has over 300 associated symptoms and often goes hand in hand with connective tissue disease. Its soooo often overlooked because to be honest Drs just don't get training on it- and unless you have the classic symptoms (which most people don't) they won't even consider testing for it. Keep in mind that the bloods have a 20% false negative rate. They say that here in Australia only 20% of people with coeliac are diagnosed so there are 80% wandering around eating gluten and not realising they are doing bad damage to themselves. Also it takes around 8 years to get a diag here because no one tests for it!

Report post

Hi Beebs, I actually had the coeliac panel done in January and it came back negative...despite that, my husband and I decided to go 100% gluten free. We bought new toasters and kitchen items and have even learned how to bake our own bread. It's been a lot of work to learn what we can and can't eat, but sadly, I can't say that it has helped at all. I'm even considering giving it up. Do you know how long it takes to see improvement if gluten is the problem?

Report post

It can take up to a couple of years, but most Drs say generally you should see an improvement within 6 months- depending on the damage it has caused your gut if you are actually coeliac. I know of people who were diagnosed with connective tissue diseases and later down the track found out they were coeliac and went into remission with the connective tissue stuff, one of the ladies said she noticed the difference connective tissue wise in 8 months. I am gluten free (as is my family) and you are right -it is a PITA!

Report post

Agreeing with the Celiac Disease comment. I was diagnosed when I was 17 (I'm now 21). Many (but not all) of my symptoms were relieved. I wouldn't recommend a gluten free diet to someone who didn't need it though. But if you're having bowel symptoms or fatigue you might benefit. There is also a gene test that doctors can do. It basically means that you can pass it on to any children, you're more likely to develop CD and you have a higher chance of being intolerant to gluten. There have been studies done recently to show that those with a gluten intolerance (not CD) have inflammation in their gut from eating gluten. (http://celiacdisease.about.com/od/glutenintolerance/a/Gluten-Intolerance-Re search.htm). Another 'test' for gluten intolerance is a gluten challenge. So you remove gluten for a set period of time and then you introduce it. You monitor your symptoms and if they are relieved, then return with a gluten free diet, there's your answer!

Good luck!

Report post

Hey paperbag princess - thanks for the link! that is interesting stuff.

Report post

I hope it resolves your issues. I've heard "celiac disease is the best autoimmune disease you can have". I guess because it's treated entirely by diet.

Good luck!

Report post

Totally - I always say it to my mother who has it as well - at least you can fix it just by diet as long as its picked up before too much damage is done of course!

Report post

I have been praying that my problems are gluten related, but it's been 6 months now, and I can't see any difference at all in my energy. I'm not sure how long I can stick it out for without some results!

Report post

Maybe just try another couple of months -having said that. If it *is* gluten and then you start eating it again - it could be pretty obvious you may start to feel bad etc.

Report post

I will try gluten free as Im pretty desperate! After being told categorically on Monday that I have fibro and not RA, my knees have just filled up with fluid at the back, and one of them has a cyst type lump there as well. Stiff and sore as hell. Last time I looked at fibro symptoms, there was no mention of joint effusions....Ive booked in with the nurse at Gp surgery - earliest appointment is monday. I just want the fluid and swelling evidenced this time, seeing as the rheumy cant be bothered examining me...

I dont doubt that I have some fibro tender points and other symptoms, but Im also fairly sure I have a joint problem that is progressive, along with the raynauds and sjogrens. My symptoms have followed a similar pattern to my mothers RA symptoms, even down to the widespread tendonitis initially, and hip problems. Hers was diagnosed thru x rays, mine originally thru rheumatoid factor, but that is now negative . I know it can be dangerous to self diagnose, but it can also be dangerous to leave a systemic illness to run its course - it killed my mum and my grandad ( he was my age when he died).

Im sick of pondering this!! Think I will just visit my GP every time I get a symptom and ask that he records it on my file - so that when I see the rheumy I can present someone elses account of my symptoms....

Report post

" I know it can be dangerous to self diagnose, but it can also be dangerous to leave a systemic illness to run its course - it killed my mum and my grandad ( he was my age when he died). "

i agree with this. My dad died at 45 because the Drs at the emergency dept said there was nothing wrong with him and to go home and come back if he still felt bad. He died that night. Drs get it wrong too - they are human and are fallible. Also - you know yourself better than any Dr ever can.

Report post

beebs you are so right! Im so sorry about your dad too. I have seen so many mistakes like that happen that I find it incerdibly difficult to trust doctors generally.

I have just written to my rheumy . She was so busy arguing with me when I saw her last that she didnt examine me - i have bakers cysts at the back of my knees - one burst and has made my calf swell and bruise, and it really hurts. This is the objective fluid effusion that my rheumy claims i dont have... and additionally both my wrists have swelled . The hips are also showing some objective signs of bursitis according to the nurse ( they sure hurt) . My rheumy needs to listen to patients more instead of fighting with them! She should be treating these symptoms, instead i have to visit my GP or the practice nurse just to get an objective record of my objective symptoms so the rheumy will actually pay attention. Im still very cross with her!

I could change rheumatologists and get a second opinion, but that still leaves the fact that this doctor needs to learn to LISTEN to her patients. I think its more productive to continue with her, but to be assertive. if that fails then I will see another rheumy. For now I will persevere. Fibromyalgia was her diagnosis, but that does not cause objective swelling in the joints, or accumulating fluid there

In the meantime Im prepared to try anything that will take away the pain and stiffness, and all the other stuff going on. Im now gluten free!!

xx

Report post

sounds like lupus

Report post

Hi Parisflower

I just wanted to tell you how similar your story is to my own. I too have had 'vague' ("silent") cognitive and fatigue symptoms, and after years of running around with doctors telling me I was over-stressed, had depression or should read the bible, I've taken leave from grad school and medical studies. Yes, I was in a dual program, and studying medicine while these things are silently taking over your life is not fun. To be honest, I couldn't get stressed about anything - in the battle of whether I should spend long hours studying for a final or get extra sleep, sleep won the effortless title. Concentration is a knock-out, and my once-sharp memory has all but left the building. I'm a 28 year-old more scholarships than I can recall, yet today I compensate like a senior citizen.

I have the maximum ANA levels that are screened for, which are >1:250 but I was not told if it was a homogenous or speckled pattern. I'm just now going through the ENA panel, but I was told I don't sound like I'll show up positive. In fact I doubt it's lupus myself. I did lose a lot of hair during my first major fatigue episode, and lost a lot of (very noticeable) weight; I began to bruise heavily and unprovoked bilaterally on my lower extremity; I felt little in the way of temperature, didn't taste 'spicy' foods and had little appetite; due to the 'brain fog' I had difficulty finding words and great difficulty putting ideas together to converse. My memory was atrocious for my high education level- I simply could not retrieve information that I knew I knew lots about. It was terrifying, yet I was subdued and didn't seek medical attention until my family doc discovered that my period had gone away to nothing.

Since then I prefer not to live alone. While my basal energy is better, it's not great, and the cognitive symptoms are what continue to ail me. I just wanted to let you know I sympathize with your situation and will be following any updates you may have.

All the best.

Report post

This discussion is closed to replies. We close all discussions after 90 days.

If there's something you'd like to discuss, click below to start a new discussion.

Things you can do

Advertisement

Advertisement

Discussion topics

Community leaders