Uncertain About Diagnosis

[Guest goldie]

Hello,

I've just joined the Forum today and would really appreciate your views about my diagnosis.

I'll try to be as brief as I can. I've been having ongoing health issues for about 28years. Seemed to start after my oldest daughter was born. I started having quite acute left side pain and gnawing stomach pains. I had some weird and wonderful things going on - will spare you the details!

I was told that I had IBS and later told I had also had gravel in my kidneys.

Anyway the years went on and the problems continued. I was then diagnosed with endometriosis as well as IBS.

At about this time(about 17 years ago) my sister was diagnosed with coeliac disease- biopsy showed total villous atrophy. She was VERY ill and weighed only 6 stone which for 5ft 7in tall was not good news. To be frank I hadn't heard of this condition before.

A few years later I was referred to a gastro specialist who thought that I had coeliac disease as well. The EMA antibody test was positive so he sent me for an endoscopy. Over a period of about 18 months I had a number of investigations and blood tests including 2 endoscopies and 3 EMA antibody tests. The EMA antibody tests all came back positive but the biopsies didn't and reported things like: marked erythema producing a prominent mozaic appearance to the mucosa of the gastric antrum and body; chronic antral inflammation; H.pylori and gastritis and slight increase in intra-epithelial lymphasytes from D2 of doubtful significance. Anyway I was prescribed antispasmodics and laxatives.

I had also been having terrible muscle/joint/bone pains and further to a routine X-ray was sent for a DEXA scan which diagnosed osteoporosis. I had been vegetarian for a number of years and for about 2 years was vegan( thought dairy might have been causing theproblems so gave it up to see if it would help). The specialist said that my vegan diet was probably the cause. I also discovered that some years before and at a time that I ate a lot of dairy an x-ray had shown osteopenia but nobody informed me.

I also started getting numbness in my hands and feet , strange nerve sensations, sore tongue and mouth and tongue ulcers.

Last year following a routine blood test it was discovered that I had severe B12 deficiency and I am now getting injections every 3 months. At about this time I had a further DEXA scan done and was again seen by a specialist because of my ongoing tiredness,joint pains etc. He did a further EMA antibody test and a TTG antibody test. The EMA was again positive and theTTG was high- 50( normal 0-15). I was referred to a different gastroenterologist who told me that even though biopsies had been negative I had coeliac disease. I was sent again for a biopsy and received a letter saying: "duodenal biopsies confirm slightly shortened villi although a diagnosis of Coeliac is not confirmed. Nonetheless her anti- TTG antibody is positive and that in conjunction with the B12 deficiency and unexplained osteoporosis, it is safe to assume she does have Coeliac disease and would certainly recommend she follow a gluten free diet and we assess a response".

To be frank without a positive biopsy and the "safe to assume" diagnosis I feel a bit of a fraud and wonder if they've got it wrong and my problems are linked to my veggie diet. My sister was so very ill compared to me. I asked the consultant this and he looked at me as if I was ad and said that they diagnose it earlier nowadays before things get too serious.

Sorry for the length of this but would appreciate comments.

[ShayFL]

I will be brief:

You need to get yourself on a gluten free diet ASAP so you dont get as ill as your sister.

YOU HAVE CELIAC DISEASE based on your tests and even some of the biopsy reports. A diagnosis depends on the physician interpreting results. Some doctors would not even have put you through a biopsy. You would have been dx based on blood and family history.

With positive blood and a sibling with the disease I do not know why in the world they would say "safe to assume" and not "celiac".

If you have children they should be tested. If your parents are living and have health problems, they should be tested.

Welcome to the club. We are here to help.

[ravenwoodglass]

I will be brief:

You need to get yourself on a gluten free diet ASAP so you dont get as ill as your sister.

YOU HAVE CELIAC DISEASE based on your tests and even some of the biopsy reports. A diagnosis depends on the physician interpreting results. Some doctors would not even have put you through a biopsy. You would have been dx based on blood and family history.

With positive blood and a sibling with the disease I do not know why in the world they would say "safe to assume" and not "celiac".

If you have children they should be tested. If your parents are living and have health problems, they should be tested.

Welcome to the club. We are here to help.

I totally and completely agree with this. I don't know why any of your doctors would waffle at all about it. Welcome and feel free to ask anything you need to or just vent. I hope you are feeling better soon.

[Guest goldie]

Many thanks for the replies.

I started a gluten free diet several months ago following the letter. Although most of my stomachy problems and acute tiredness have gone I still have a lot of muscle/joint/bone pain. Maybe I was expecting too much.

Because I have seen so many specialists and had so many tests done over so many years it is difficult to feel confident with any diagnosis and I just would have felt surer if the biopsy report had confirmed it.

The other thing the blood tests last year showed was a positive ANA - ANF antibody class nucleolar weak positive 1/80.

Does this mean anything to anybody ?

Thanks again.

[ShayFL]

ANA is indicative of auto-immune disease, but it is not specific. Celiac is auto-immune (which you have). Auto-immune diseases often come in multiples. Hashimotos Thyroid and Diabetes are common in Celiacs. But your symptoms could be RA (rheumatoid arthritis) which is also auto-immune. You should see a specialist in RA.

Make extra sure you are not getting any "hidden" gluten (scratched teflon, old cutting boards, old toaster, old wooden spoons or plates, old strainer, cosmetics, creams, shampoo, etc.)

Also, many people have to cut out dairy for awhile until their intestines heal. You might try cutting out ALL dairy for 3 months to see if you improve. You can add it back in at some point and see if you tolerate it again.

Soy also seems to be a big issue for many Celiacs.

ALSO keep in mind that healing can take time. I am nearly 5 months in and I am not all better yet. It can take months to over a year to be free of all symptoms.

Hang in there!

[Guest goldie]

Thanks for your reply.

I've been tested several times over the years for RA but results always negative. However it is in the family - my sister (the coeliac one) and my mother both have it.

Regarding the family testing advised before - I tested my youngest daughter using the over the counter test ( I'm in the UK and you can get that here) and I plan to make sure my other duughters get tested. My mum has been tested - negative. However, knowing her as I do and her love of all things with gluten I do wonder if she went ahead with it.My dad passed away a few years ago . Looking back he frequently seemed to have stomach problems.

One thing on a positive note - I used to get really red eyes almost weekly - so bad that on occasions my doctor ensured I had an immediate specialist appointment ( very rare occurance on the NHS!)at the hospital eye clinic. So far since starting the diet I haven't had this. Out of interest has anyone else had red eyes ?

Thanks

[Guest goldie]

Hello me again - replying to myself!

Just want to have a moan about doctors and information- or lack of it.

After a protracted argument with my doctor's practice I have eventually been given blood results. When I asked if I could have the results from last September and March this year the retort was " what are you going to do with those then? - can't get them they're on a different browser".

The TTG level in September had risen to 115.4 (range 0- 10)and I had an abnormally low white cell count and neutrophil count- both flagged red- these have been very near the bottom of range for the last few years.

However in March this year the white cell count and neutrophil count were both well within normal range. I don't know what the TTG was .It wasn't on the report.

I started the gluten free diet around November last year - a bit of a coincidence that by March the readings were normal ??

Perhaps if I'd been told that my TTG had gone up from 50 to 115.4 by the specialist I might have been more comfortable with the diagnosis.

Thanks

[ravenwoodglass]

Hello me again - replying to myself!

Just want to have a moan about doctors and information- or lack of it.

After a protracted argument with my doctor's practice I have eventually been given blood results. When I asked if I could have the results from last September and March this year the retort was " what are you going to do with those then? - can't get them they're on a different browser".

The TTG level in September had risen to 115.4 (range 0- 10)and I had an abnormally low white cell count and neutrophil count- both flagged red- these have been very near the bottom of range for the last few years.

However in March this year the white cell count and neutrophil count were both well within normal range. I don't know what the TTG was .It wasn't on the report.

I started the gluten free diet around November last year - a bit of a coincidence that by March the readings were normal ??

Perhaps if I'd been told that my TTG had gone up from 50 to 115.4 by the specialist I might have been more comfortable with the diagnosis.

Thanks

Doctors GRRRRRRRRRRRR

I am glad you are now comfortable with things and back on the diet. Try to have patience with the joint and muscle stuff, I know it took a long time for my issues to go into remission and it does for many others too. You should notice a difference soon though even if things don't totally resolve.

I hope you heal soon.

[Guest goldie]

Thanks for the reply.

This has been going on for so long - probably 28years that you even start to wonder how it began- what were the initial symptoms etc . I think that for a very long time the symptoms were so many and so varied I felt the medics thought that it was imagined. I had told various GPs that I was having numbness in my feet and arms and burning sensations etc

on my skin- but was totally ignored - it was then discovered following an abnormall red blood count test that I had severe B12 defiiency which explained the "imagined" numbness.With me I think the problem has been that I have had so many things going on that I feel they think you are imagining it.It has been sooooo difficult to explain over the years to the medical people. I even had one GP tell me when I said " could it be coeliac" that this only happened to children - even though I then told her that my sister had been diagnosed as coeliac at age 30 +. She said this couldn't be the case - it only affected children. I am so totally lacking confidence in the medical profession. The nurse who wouldn't give me my results also added she didn't understand them. Everything here takes so long. Anyway hopefully now I will start to improve and be as I should be - whatever that is - you begin to forget what "normal" is.

Perhaps the jointy problems wont go away - My family has RA and osteoarthritis whichever way you turn - I can cope with that I just wnt to feel more energised and positive.

[ravenwoodglass]

Thanks for the reply.

This has been going on for so long - probably 28years that you even start to wonder how it began- what were the initial symptoms etc . I think that for a very long time the symptoms were so many and so varied I felt the medics thought that it was imagined. I had told various GPs that I was having numbness in my feet and arms and burning sensations etc

on my skin- but was totally ignored - it was then discovered following an abnormall red blood count test that I had severe B12 defiiency which explained the "imagined" numbness.With me I think the problem has been that I have had so many things going on that I feel they think you are imagining it.It has been sooooo difficult to explain over the years to the medical people. I even had one GP tell me when I said " could it be coeliac" that this only happened to children - even though I then told her that my sister had been diagnosed as coeliac at age 30 +. She said this couldn't be the case - it only affected children. I am so totally lacking confidence in the medical profession. The nurse who wouldn't give me my results also added she didn't understand them. Everything here takes so long. Anyway hopefully now I will start to improve and be as I should be - whatever that is - you begin to forget what "normal" is.

Perhaps the jointy problems wont go away - My family has RA and osteoarthritis whichever way you turn - I can cope with that I just wnt to feel more energised and positive.

I had the same problems as you with doctors. I think one of the main reasons is that they see us as a bunch of organs specific to whatever their specialty is so when we have a condition that effects multiple systems they are never able to put one and one together.

I do hope the joint problems resolve or at least improve a bit for you. If you can get some sublingual B12 that may help your energy levels and mood a bit.

[Guest goldie]

Thanks.

I get B12 injections every 3 months but expect I need more but in UK they will only do it every 3 months - a cost thing. It has raised my B12 level but I am still at lower end of scale. I will try tablets - I don't think you can overdose on B12.

[ravenwoodglass]

Thanks.

I get B12 injections every 3 months but expect I need more but in UK they will only do it every 3 months - a cost thing. It has raised my B12 level but I am still at lower end of scale. I will try tablets - I don't think you can overdose on B12.

Your right there are no toxic levels for this vitamin. It is water soluable and you just excrete any excess. The sublinguals may help quite a bit. For many of us the lower end of the scale is still too low.