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another case of difficult diagnosis


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Old 10-09-2016, 05:13 PM   #1
jessyBR
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another case of difficult diagnosis

So...my symptoms started with joint pains, I was 10 yo so theyd say it was growing pains. But it didnt stop, and at 13 an orthopedist diagnosis it as fibromyalgia.
At 15 yo I began to have gastrointestinal problems (diarrhea alternating with constipation, abdominal pain and bleeding in the stool).
Only when i was 21 someone thought of ask for a lactose intolerance test. It came back positive. and i thought this would solve my gi problems.
it did in the beggining, but then it came back again.
i tried to just live my life cause everybody kept saying it was all in my head, and some diet and exercises would be suficient.
But it just kept growing. Then i began to feel extreme fatigue. i couldnt stay awake for more than 12h, most time spent in bed... really struggling when i had to walk more than 5min.
I had done a bunch of blood and image tests, but all inconclusive (elevated pcr, esr, fibrinogen, homocistein; some ulcers on the ileum, joint swelling in the ankles (joint effusion)...
i believe some doctors had suspect of lupus, but my ANA is negative (i did it more than once, although it was with the same laboratory lol)
The autoantibodies that were positive were: anti ssa(ro) -Anti ssb (LA) ,anti sm, anti rnp and anti tpo (my thyroid levels are normal)
So.. i cant handle it anymore. The symptoms only seem to increase. And I am also experiencing dizzines, depression, brain fog, nausea, lack of appetite...
i also have a skin rash that i was told is rosacea. She didnt ask for any biopsies, just looked at me and said it was rosacea. the treatment didnt worked. (that was many years ago when i still had some health to care for what I tought was just aesthetic).
i went to a rheumatologist a few weeks ago. She just looked at me like i was some sedentary and hypochondriac crazy lol
She told me i had fibromyalgia u.u but when i told her about hashimotos she asked for some blood tests. The only autoantibody was ANA, and
yes it came back negative again. Only abnormal thing were the habitual pcr and esr.
I dont want to have lupus :P but it is exhaustive to keep feeling so bad and no one seems to know what it is, or even prescribe something
that gave me any relief.
I need some advices on what to do next. Do you guys think it can be lupus even being ANA negative?
I am thinking on finding some dermatologist and ask for a biopsie, but i dont know if they will take me seriously >.<

 
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Old 10-09-2016, 05:37 PM   #2
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Re: another case of difficult diagnosis

Hi and welcome. I'm so sorry to read about your ongoing issues, which sound pretty similar to what mine used to be. I had problems from early childhood, sharply increasing at 13 when hormone levels increased (elevated sed rate, low-grade fever, joint pain & miserable pain along long bones, like shins, also depressed white blood cell count), more in mid-20's (miserable GI problems started), migraines from early 30's on, photosensitive rashes starting in late 30's, hair loss, weight loss, ETC. Yet no answers, no matter how hard I tried with gastroenterologists, dermatologists, and GP's.

One fine day I found pics of what my rash appeared to be (well, in my august opinion anyway) and took myself to a teaching hospital rheumatologist.

My ANA was never positive. This new doctor tested for all the subtypes ANYWAY and found positive anti-Ro. And for more proof, he sent me to a dermatopathologist for a lupus band test (LBT). It's a deep-punch biopsy & requires local numbing & a few stitches afterward. In the first step of testing, the punch is examined under the microscope to look for tell-tale cellular changes. In the second step, a series of live immunofluorescent stains are applied, to see whether "linear bands" appear (fluoresce). If all five stains create such linear bands, the probability of SLE is > 99%. All five did on my test---on three different punches taken at three different times.

Most interesting things my two specialists told me. It's possible to be positive for anti-Ro but to have a negative ANA: it's a rare presentation of lupus, what they both described as a "subset". How rare? Less than 5% of all lupus dx'es. This rare presentation "favors" women of western European heritage (my family was mostly English, on both sides). My rashes: those were a lupus-specific rash called Subacute Cutaneous Lupus Erythematosus (abbreviated SCLE), the annular (targetlike) form.

Have you read the sticky posts (permanent info posts) located above the thread list? You'll find some good info there, including some excellent books you could find in most libraries that cover some of my key points (anti-Ro in lupus, the Lupus Band test, etc.).

If you DO pursue a skin biopsy, I'd aim for that "LBT" described above.

We'd love to hear more! Meanwhile, thinking of you and sending warm wishes. Don't quit trying, OK?

 
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Old 10-10-2016, 12:38 PM   #3
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Re: another case of difficult diagnosis

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Originally Posted by VeeJ View Post
Hi and welcome. I'm so sorry to read about your ongoing issues, which sound pretty similar to what mine used to be. I had problems from early childhood, sharply increasing at 13 when hormone levels increased (elevated sed rate, low-grade fever, joint pain & miserable pain along long bones, like shins, also depressed white blood cell count), more in mid-20's (miserable GI problems started), migraines from early 30's on, photosensitive rashes starting in late 30's, hair loss, weight loss, ETC. Yet no answers, no matter how hard I tried with gastroenterologists, dermatologists, and GP's.

One fine day I found pics of what my rash appeared to be (well, in my august opinion anyway) and took myself to a teaching hospital rheumatologist.

My ANA was never positive. This new doctor tested for all the subtypes ANYWAY and found positive anti-Ro. And for more proof, he sent me to a dermatopathologist for a lupus band test (LBT). It's a deep-punch biopsy & requires local numbing & a few stitches afterward. In the first step of testing, the punch is examined under the microscope to look for tell-tale cellular changes. In the second step, a series of live immunofluorescent stains are applied, to see whether "linear bands" appear (fluoresce). If all five stains create such linear bands, the probability of SLE is > 99%. All five did on my test---on three different punches taken at three different times.

Most interesting things my two specialists told me. It's possible to be positive for anti-Ro but to have a negative ANA: it's a rare presentation of lupus, what they both described as a "subset". How rare? Less than 5% of all lupus dx'es. This rare presentation "favors" women of western European heritage (my family was mostly English, on both sides). My rashes: those were a lupus-specific rash called Subacute Cutaneous Lupus Erythematosus (abbreviated SCLE), the annular (targetlike) form.

Have you read the sticky posts (permanent info posts) located above the thread list? You'll find some good info there, including some excellent books you could find in most libraries that cover some of my key points (anti-Ro in lupus, the Lupus Band test, etc.).

If you DO pursue a skin biopsy, I'd aim for that "LBT" described above.

We'd love to hear more! Meanwhile, thinking of you and sending warm wishes. Don't quit trying, OK?

Hi! Thank you so much for your answer!!
Yes, your case indeed sound a lot like mine. :O
I live in Brazil and I havent find any dermatopathologist here in my city >.<
and nothing called lupus band test, but i think i find a laboratory that does what they call "direct immunofluoressence" and in the description they say it can diagnosis lupus. Do you think is the same thing?

I cant find the books here either...

Im trying to schedule with a dermathologist.
Im also going to a gastroenterologist who told me she will ask for a endoscopy with biopsies because she thinks it can be celiac disease oO
Ill let you know!

Thank you soo much. ^-^

 
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Old 10-10-2016, 02:09 PM   #4
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Re: another case of difficult diagnosis

I think direct immunofluorescence refers to one method of autoimmune blood labs.

While I do think testing for Celiac* makes sense, the fact that you've had positive results on *multiple* ANA subtypes that are *all* possible in lupus---anti-Ro, anti-La, anti-Sm, and anti-RNP---seems really important. Do you know how high those were---meaning their actual readings for each, including the "reference range" (normal range) for each?

*Celiac can co-exist with other conditions, so no matter what you find out for it, I think you still need to chase down what's going on with anti-Ro, La, Sm, and RNP.

A dermatologist should at least know about the LBT (lupus band test), but look for one who's into medical conditions as opposed to cosmetic procedures. Then the next question would be whether that person is skilled at doing the test (it takes a high degree of proficiency)---or knows a lab that is skilled enough.

Re the books, perhaps a university library or bookstore would stock them?

Keep us posted, OK? Good luck!

 
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Old 10-10-2016, 05:07 PM   #5
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Re: another case of difficult diagnosis

I strongly believe its something very similiar to Lupus you are experiencing. Im 31 yo & Ive had Lupus SLE since 18. As a child maybe 5-8yo i remember have quick shooting pains in the chest which my primary care doc said was "growing pains". Years later this very same doc took an x-ray of my chest after I was having lots of fluid retention in my body.stomach down to my ankles. Turned out to be pericarditis. 2 Liters of fluid around my heart had to be removed. Id say keep getting tested and watch out for more unusual fatigue, joint pain etc & keep in touch with your doc. You dont want to wait too ling like I did in the beginning. They saved my life. Also avoid high salt.. too much sweets..& too much sun... get your rest when needed. *Hugs*

 
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Old 10-11-2016, 02:58 AM   #6
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Re: another case of difficult diagnosis

jessy, Niki just mentioned being told early on that her problem was "growing pains"; I was told same at age 13. This reminded me of the "alternative criteria", a brilliant list compiled by one of the top rheumatologists in the world. In it, he lists subtle problems seen early in life in people who later develop lupus---i.e., subtle things that go beyond the formal criteria. You may find these "alternative criteria" in same sticky post that has the formal lupus criteria: just scroll down.

Once you read the alternative criteria, out of curiosity, do you think you match on many/most? Niki, if you're still reading this, do you? (I match most.) If you DO, then adding that fact to the presence of multiple ab's associated with lupus, I'd say you need to find a more sophisticated rheum, one who knows the less-common presentations. (I ended up taking myself to a teaching hospital practice.)

Re GI problems. I'd read right over your mention of ulcers in the ileum and occasionally passing blood (sorry). One of my lupus hardcovers discusses GI problems in lupus. "Functional bowel problems" are indeed seen in many lupus patients and are attributed to concurrent fibromyalgia; but some lupus patients have something bigger, concurrent Ulcerative Colitis (inflammation of lining of large colon). And another GI condition, Crohn's disease (also known as regional ileitis), is almost NEVER seen in conjunction with lupus.

So, have you had a full-blown colonoscopy? If not, I definitely think you should. (BTW, they are easy to get thru these days, so please don't over-worry.) Keep us posted! Sending hugs.

Last edited by VeeJ; 10-11-2016 at 03:16 AM. Reason: typos

 
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Old 10-11-2016, 03:29 AM   #7
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Re: another case of difficult diagnosis

Hi veeJ,
I cannot find the sticky notes you are referring to but I can say it makes sense that sypmtoms manifest itself very early on before diagnosis is made. When i was younger tests showed up protein in my urine. Even though i dont have problems with my kidneys as some with Lupus , Ive heard its common for protein to be present in urine. for many yrs before diagnosis i used to get mild pain in my wrists when I would wake up in the mornings. Feeling fatigued after waking up was common too. Please copy & past the criteria! id like to see it.

 
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Old 10-11-2016, 04:45 AM   #8
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Re: another case of difficult diagnosis

Niki, to see the "stickies", return to the main lupus board, the one where all active threads display (as opposed to drilling down to view a single thread). At the very top you'll see a separate group, some with lock symbols; those are the "stickies". I was only curious about how your symptoms & labs evolved, because of your dx at age 18... because finding a doctor who's AWARE of those subtleties could be mighty helpful to people still seeking a dx. (None of my local doctors seemed to know much about lupus, including the rheums. And I saw 8+ dermatologists over 8+ years for my rash, which admittedly was quite weird, not the best-known of the lupus rashes.)

How are you doing now? I hope you're stable, that the really nasty stuff is all behind you. Sending my best to you.

 
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Old 10-11-2016, 11:15 PM   #9
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Re: another case of difficult diagnosis

Hey thanks 😊 I found the sticky note. I had abt 4 or maybe 6 symptoms of the criteria during the flareup: pericarditis, arthritis,blood tests showed up some activity, so that probably constitued for a few more. The Hospital I went to was called Schneiders Childrens Hospital they have some really good doctors... right next door is LIJ( Long Island Jewish Hospital).These are located in LongIsland,NY. Great team of doctors. I truly hope the worst is behind me.. Pericarditis flares are supposed to be rare. Just managing the fatigue that can catch me off guard, and all the little subtle symptoms that come & go. Truly hoping you & Jess find the right team of docs who will take their time and figure out whats wrong. 🙏

 
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Old 10-12-2016, 04:17 AM   #10
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Re: another case of difficult diagnosis

Niki, good to hear you're managing. I know of Schneiders & think you were lucky to have such a collection of doctors available to you. Take good care.

 
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Old 10-22-2016, 01:13 PM   #11
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Re: another case of difficult diagnosis

Sorry I didnt answer before :/

So...
the antibodies values are:

anti ro: 14,1 - normal range <1
anti la: 11 <1
anti sm: 2,8 <0.8
anti rnp: 13,8 <0.8

I dont think they are so high, but still...

- Ive been to the dermatologist. She told me it is probably rosacea, but it could be lupus and only a biopsy can tell for sure, so she ordered it.
she also noticed my chest was really red (it happens sometimes) she told me its urticaria .-.

I´ve had the endoscopy and the report said that I have 'Scalloping of the Kerckring folds' and for what ive been researching it is usually
related to celiac disease.

Then, I dont know if i have the skin biopsy now, or wait to see if it was "only" CD.
My family doesnt want me to do it now cause it leaves a scar >.<

 
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Old 10-22-2016, 01:25 PM   #12
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Re: another case of difficult diagnosis

Quote:
Originally Posted by Niki305 View Post
I strongly believe its something very similiar to Lupus you are experiencing. Im 31 yo & Ive had Lupus SLE since 18. As a child maybe 5-8yo i remember have quick shooting pains in the chest which my primary care doc said was "growing pains". Years later this very same doc took an x-ray of my chest after I was having lots of fluid retention in my body.stomach down to my ankles. Turned out to be pericarditis. 2 Liters of fluid around my heart had to be removed. Id say keep getting tested and watch out for more unusual fatigue, joint pain etc & keep in touch with your doc. You dont want to wait too ling like I did in the beginning. They saved my life. Also avoid high salt.. too much sweets..& too much sun... get your rest when needed. *Hugs*
Thank you for telling you case!
yes, we have similar issues >.<
Thanks for the advices... i sure will keep searching for an answer!! ^-^

 
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Old 10-22-2016, 01:48 PM   #13
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Re: another case of difficult diagnosis

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Originally Posted by VeeJ View Post
jessy, Niki just mentioned being told early on that her problem was "growing pains"; I was told same at age 13. This reminded me of the "alternative criteria", a brilliant list compiled by one of the top rheumatologists in the world. In it, he lists subtle problems seen early in life in people who later develop lupus---i.e., subtle things that go beyond the formal criteria. You may find these "alternative criteria" in same sticky post that has the formal lupus criteria: just scroll down.

Once you read the alternative criteria, out of curiosity, do you think you match on many/most? Niki, if you're still reading this, do you? (I match most.) If you DO, then adding that fact to the presence of multiple ab's associated with lupus, I'd say you need to find a more sophisticated rheum, one who knows the less-common presentations. (I ended up taking myself to a teaching hospital practice.)

Re GI problems. I'd read right over your mention of ulcers in the ileum and occasionally passing blood (sorry). One of my lupus hardcovers discusses GI problems in lupus. "Functional bowel problems" are indeed seen in many lupus patients and are attributed to concurrent fibromyalgia; but some lupus patients have something bigger, concurrent Ulcerative Colitis (inflammation of lining of large colon). And another GI condition, Crohn's disease (also known as regional ileitis), is almost NEVER seen in conjunction with lupus.

So, have you had a full-blown colonoscopy? If not, I definitely think you should. (BTW, they are easy to get thru these days, so please don't over-worry.) Keep us posted! Sending hugs.
Ive read the alternative criteria! I match 5 of them. I agree I need to find a rheum that knows about unusual cases! Hope I can...

Im seeing a gastroenterologist that is specialist in Inflammatory bowel diseases. ive done a bunch of tests (colonoscopy, asca and anca,etc) but all inconclusive...
She diagnosis me with SIBO after a breath test. I was on antibiotics and probiotics but it didnt seem to have helped :/

 
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Old 10-25-2016, 12:14 AM   #14
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Re: another case of difficult diagnosis

Hi Jessy!
So sorry for my late response.... Quick suggestion have you heard about the Mayo Clinic? Im hearing they are pretty good at Lupus findings. If you google it, it tells you a few locations.Be sure to look up Lupus on the site as well. Again all the best to you... with Gods help & alittle perseverance you will find the proper treatment soon Im sure.

 
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Old 10-25-2016, 03:30 AM   #15
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Re: another case of difficult diagnosis

jessy, biopsy scar for the Lupus Band Test is tiny. In systemic disease, "immune junk" is deposited between the dermal & epidermal layers of skin THROUGHOUT your body, due to AB's circulating in your bloodstream. So my two scars are on upper arms, carefully avoiding muscle, and are both much smaller than my polio vaccine scar. Were red for awhile, then faded to almost-normal skin tone. In other words, unremarkable and a very small price to pay to get my entire life back on track! (And you're young & have a lot more years that you should be grabbing & enjoying!)

Mayo has a "satellite" location in northern Florida, I think. But since you're in Brazil, why not look in Brazil for a teaching hospital = a large hospital that BOTH treats patients AND educates/trains doctors? That's where you find the most up-to-date knowledge. Think large cities. Ideally multiple specialists would work together to get answers. Please keep us posted.

 
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