Genetic Testing? Alternative to eating gluten for diagnosis?

[Vic89]

Hello

I am new to this forum. 

I think I may have celiac or a high sensitivity to gluten.  I have avoided it for a long time (I found not eating dairy and gluten helped massively with cat allergy - having to live with a cat at mo) and recently was travelling and ended up eating bread most days and after 5 days I felt awful, I had extreme tiredness, muscle pain, tearfulness/depression, mouth sores, I still feel awful 2 days later having not eaten gluten.

I kind of think a celiac diagnosis would make total sense out of my whole life!! I have had the following:

- autoimmune ITP (immune system destroys platelets needed to clot blood)

-asthma

-endometriosis

-canker sores

-depression / anxiety

-constant tiredness

-hayfever/allergies/rhinitis

-numbness/tingling in toes

-IBS/diaorreah

Obviously not all of these may be related and maybe doctors don't see a link between these things, but reading other sites, gluten can be a factor. 

The strange thing is I think I was tested years ago, but I wasn't eating gluten at the time and not told to (which I am very cross about if it turns out I am celiac), so it came back negative.

I am going to book a GP appointment to discuss this, but I cannot face eaten gluten again for the testing - I don't think I could survive 6 weeks or whatever it is of eating gluten it would be hell.  Is there anyway to avoid this?  Is genetic testing an option? 

Thanks in advance

Vicky

 

 

[frieze]

No, it is not, many persons have the gene and don't have celiac.  If you are in the USA they do not test for all potential genes, so you could end up with a false negative.  gluten challenge is the way to go.

[ravenwoodglass]

I agree with the previous poster. Your body is clearly giving you the answer as to whether you need to be gluten free.  If they had done pre-diagnosis gene testing on me I would likely be dead by now. I would have been told I couldn't have celiac because I don't carry one of the two most common genes. I have a double copy of a rarer celiac gene that is now just being recognized as celiac associated in the US. You need to either do a challenge or live like you have been diagnosed. 

Do read the Newbie 101 thread at the top of the Coping section as it has a lot of valuable info to keep you safe.

[GFinDC]

Hi Vicki,

You may have celaic.  You could also have a low thyroid problem or diabetes.  It would be a good idea to eliminate those possibilities.  Another possibility is to get allergy testing done.  Your symptoms do sound like celiac but since you don't want to eat gluten for testing, eliminating some other possible conditions might be a good idea.

You may also have NCGS but there isn't any testing for that.

[Ruthiegirl24]

I was genetically tested and found I have the gene type for celiac. My grandmother died of colon problems and my mom had all the celiac disease symptoms. Once I found out I'm genetically predisposed to having celiac disease I took a symptoms test and unfortunately I have all the symptoms except weight loss. Am in shock mode right now as my entire life I was told I'd feel better if I just lost weight. Constantly being misdiagnosed. I had severe vitamin D deficiency and broke 5 bones in my right leg in my forties from a fall and car accident. No one even bothered to test me then either. I would say get genetically tested, do a symptom check list, and get an excellent book on the disease. It's incredibly depressing that I invested so much time and money trying to take care of my health only to realize my entire life I've been misdiagnosed. Don't give up. There's such a thing called atypical celiac disease, meaning that not everyone has all the symptoms or responds with the same symptom severity. 

[Geoff01]

I'm male, 55yrs and of European background (NZ). I have lived in the Philippines for 15 years as a scientist/geologist.

A few years ago I noticed that i would have diarrhea immediately after breakfast which was toast, butter relish and cheese or jam and coffee. Not sure how long ago this started but maybe 3-4 years.  I went through a lot of this at other meals and was constantly feeling bloated and gassy. But I wasn't skinny. In fact I was rather overweight.

I've also had very slow peripheral neuropathy developing on the pad of my left foot as numbness since I was in my late twenties.  I have had this tested a few times in recent years as I started tripping at least once a year and spraining or breaking bones in my ankles. In opposite feet 5 years in a row near Xmas! Very annoying and embarrassing.

I was at home in NZ a year ago and talking to my sister who has Celiac Disease, diagnosed in her twenties. I came home and started reading about it (as it is genetic, siblings have a 1 in 4 or 20 chance to also have it) and saw that neuropathy may be caused by it. The gastro problems got worse but not extreme (except regular diarhoea and some constipation - but hard to pin down the causes). I went to a few doctors but none seemed to really understand what was going on or how to treat me.  My main cause for seeing them was to stop or reverse the neuropathy.  Then I saw a neuropathist recently and explained my theory that my neuropathy could be celiac related and could we find out.  He showed me that I couldn't balance on one foot with my eyes closed. Nerve conduction tests showed significant nerve damage, particularly in my lower legs but no ataxia yet (funny walk). He sent me for a brain scan and this shows that I have bright spots around the sinus' in my brain that are common in migraine suffers and 80 year olds!!! Also High CRP (systemic inflamation). but all glucose, thyroid, diabetes, alcoholism  other possible contributors were negative.

This started me on a bit of a panic searching for a cure on the web and in medical journals.  It seemed that if the neuropathy was clearly celiac related then a gluten-free diet would at least arrest it.  A direct link appears to be difficult to prove but I think it likely (Hope so because celiac disease is the easiest possible cause to treat).

I went on a strict gluten free diet in about June of last year and experimented with various foods as isolated experiments.  Milk is a problem. Cheese less so. so they had to go as well.  I'm still experimenting with beer.  Local SM Light seems ok in moderation but probably should go. Tsingtao and Corona is great with <10ppm gluten.  I actually quite like the Aussie Soy milk I can buy here.  I should say that the Philippines is a Celiac nightmare. They is only ONE health food shop that I know of that sells gluten free food and no-one (doctors, chefs) knows much about it so I have to be really careful when I go out.  I cook at home a lot and my wife is learning.

I went back home to NZ in September and had a celiac disease serum test. It came back negative but I hadn't felt up to doing a month eating bread and feeling sick. Since none of these tests were available in the Philippines, I had a DNA test.  It came back with Negative DQ2 and DQ8 and recommended that celiac disease was not possible, but that I had gene DQB1*02:02. The same test also showed that I also had DQA1*02:01.  Back to the research!  It turns out that 5.8% of diagnosed celiac disease sufferers have this Gene configuration and it is called DQ2.2 and recognised as a direct cause of celiac disease. It is also predominantly exhibited in men as opposed to DQ2/DQ8 which is F:M - 2:1. Other journals suggest that DQ2.2 may have a stronger link with neuropathy and non GI related celiac disease issues than DQ2/DQ8. From reading between the lines it appears that celiac disease caused by DQ2.2 may relate to delayed responses to gluten (me - 5 hours) rather than instant responses for DQ2/DQ8 celiac disease sufferers. This makes it more difficult to recognise and diagnose.

Now that I've been off Gluten for over 6 months, I'm noticing a much increased reaction when I get Glutened. I had some Lumpia (yummy mince, sprout mixture cooked in a crispy pastry shell) that my wife cooked, on 14th Dec, and was really sick for the next 4 days. I started a diary. I had the Lumpia on the 14th at 5pm.  By 11pm I had stomach pains, bloating and gas. The next morning I had diarrhea and gas. This lasted all day and stomach pains grew. by night I was very bloated and had constipation and stomach pains. I lay on the couch in a brain fog for the next 3 days with constipation, bloated and with strong stomach pains and flu-like rib and back pains. Didn't want to eat. Horrible.  Then 4 days later at a friends Xmas party I was into my 3rd fork of turkey and stuffing when my wife grabbed my hand and said stop. I hadn't even thought of the bread in the stuffing (Duh!). By the end of the party I was gassy and uncomfortable and sweating too much. Next - 4 more days on the couch feeling like death warmed up.  Over this 12 day period I lost 5kg mostly through not eating I suspect. I think, together with the gene test, this proves celiac disease and I don't think I'll be doing a Gluten challenge for the doctors.

I hope this description of my journey will help someone else. I think I understand how to keep myself healthy now, I bake my own nutty bread, Live on curries and chillis on rice, quinoa, millet and sweet potato and I've also stopped eating most meat (as in another experiment I cut meat for 2 weeks then had a meat meal and felt terrible). I eat fish and chicken but not every meal, often just vegetable (curry) and salads. I'm sure its different for everyone and the only way to learn what works is to get onto a bland diet for a while then run single meal or single ingredient tests on yourself.

Good Luck fellow Celiacs!

[Jmg]

Hi Geoff, welcome to the forum and thanks for sharing your experience.

There was a lot in there I found of interest but I wanted to briefly respond to this point:

7 hours ago, Geoff01 said:

I'm still experimenting with beer.  Local SM Light seems ok in moderation but probably should go. Tsingtao and Corona is great with <10ppm gluten

I understand your background and that you've done your own research. However I wonder if you're in danger of falling into a grey zone where in the absence of the celiac diagnosis you're taking risks that celiacs would be warned away from? ELISA testing of liquids is not perfect, there's a chance that a liquid can test <20ppm and be labelled gluten free whilst still containing fragments that are big enough to cause a reaction.  So a diagnosed celiac should definitely avoid beer, although I know you're not the only one to drink corona. I say this because I was guilty of doing exactly the same thing with regards to milk and dairy products. I've recently cut them completely and noticed a big difference.  I think if I'd had a diagnosis maybe I wouldn't have made up my own rules and would have felt better for it?

All the best 

Matt

 

[Geoff01]

14 hours ago, Jmg said:

Hi Geoff, welcome to the forum and thanks for sharing your experience.

There was a lot in there I found of interest but I wanted to briefly respond to this point:

I understand your background and that you've done your own research. However I wonder if you're in danger of falling into a grey zone where in the absence of the celiac diagnosis you're taking risks that celiacs would be warned away from? ELISA testing of liquids is not perfect, there's a chance that a liquid can test <20ppm and be labelled gluten free whilst still containing fragments that are big enough to cause a reaction.  So a diagnosed celiac should definitely avoid beer, although I know you're not the only one to drink corona. I say this because I was guilty of doing exactly the same thing with regards to milk and dairy products. I've recently cut them completely and noticed a big difference.  I think if I'd had a diagnosis maybe I wouldn't have made up my own rules and would have felt better for it?

All the best 

Matt

 

Thanks Matt. You're quite right of course. I guess I'm still in a bit of denial regarding beer. Its such an easy sociable drink in this part of the world and anything else is difficult.  I've also noticed a reaction to dairy and gluten free oats. 

I guess I should take all this and all the tests to date to a GI Doc and talk about whether it is celiac disease confirmation or not. As I said, I'm really not keen to do a gluten challenge. I cant imagine making myself that sick for 3 months on purpose! The main purpose of my journey was to arrest or fix my peripheral neuropathy  and even if it is being caused by gluten I probably wont see any relief for some years on a gluten-free diet. On the other hand, small amounts of gluten are causing a lot of belly pain and 4 days of sickness. That alone is worth the gluten free diet. I'll find a Doc to talk about, about a diagnosis!

Cheers

Geoff

[Jmg]

3 hours ago, Geoff01 said:

Thanks Matt. You're quite right of course. I guess I'm still in a bit of denial regarding beer. Its such an easy sociable drink in this part of the world and anything else is difficult.  I've also noticed a reaction to dairy and gluten free oats. 

I guess I should take all this and all the tests to date to a GI Doc and talk about whether it is celiac disease confirmation or not. As I said, I'm really not keen to do a gluten challenge. I cant imagine making myself that sick for 3 months on purpose! The main purpose of my journey was to arrest or fix my peripheral neuropathy  and even if it is being caused by gluten I probably wont see any relief for some years on a gluten-free diet. On the other hand, small amounts of gluten are causing a lot of belly pain and 4 days of sickness. That alone is worth the gluten free diet. I'll find a Doc to talk about, about a diagnosis!

Cheers

Geoff

For me, again not a diagnosed celiac, the neuro symptoms are first to arrive, last to leave if I slip on the diet, almost like an early warning system. I don't know the reasons why, but that's how it seems to operate. However they weren't the first symptoms I experienced growing up, I think they took time to develop then. So if the neuropathy is gluten mediated it may be that its the last to go, and it may be that it needs a stricter approach to the diet than you've managed so far on your own.  

I think seeing a GI couldn't hurt, but you may first want to think through your attitude to a challenge because that's the likely suggestion if you want to push for a diagnosis.  I did it, found it unpleasant, didn't get the result I expected, but was still advised to be gluten free for life based on my response. I don't regret it, because I was desperate for answers and it confirmed my symptoms returned with gluten so I got a partial answer, but neither do I view it as essential as long as you've established a response to gluten and have the resolve to live as if the diagnosis was positive.

In your case with symptoms quite severe, you may be running a risk doing the challenge, but you may, if celiac, also be running a significant risk with the beer or other foods which self experimentation may be telling you that you can have. That idea of being able to tolerate small amounts of gluten is anathema to celiac due to activation of the immune system on tiny amounts.  I cant drag the paper up now but there's a sobering one about celiacs that slip on the diet once a month which helped to keep me strict on the diet. 

Anyway, whichever way you choose I wish you the best of luck. Do come back and tell us, I loved my time in NZ so the Philippines must be lovely indeed to keep you away! 

Matt

ps. You may find this of interest on gluten mediated neuropathy: Open Original Shared Link Open Original Shared Link

 

 

[Geoff01]

Thanks Matt.  I’ve also read the papers that suggest that the smallest amount of gluten is likely to perpetuate celiac disease damage. I seem to have most other aspects of my diet sorted.  I’ll have to switch to GnT and wine. I sort of know this already. Getting my head around it.

BTW, out of interest, can you tell me what your “neuro symptoms” are? I’m interested in the various responses by different people. My PN is actual nerve damage (demylonisation) so I’m not sure that my body CAN repair this. I’ll be happy just to stop the progression. I certainly get brain fog when in an attack but it goes away just as quickly.  My grandfather died of colon cancer albeit in his 90s and my mother has Alzheimer’s so there’s a lot of reasons to go gluten free. I’ll have to toughen up!

cheers

Geoff

[Jmg]

55 minutes ago, Geoff01 said:

 

BTW, out of interest, can you tell me what your “neuro symptoms” are? I’m interested in the various responses by different people.

Happy to.

I get the brain fog confusion, then depression and anxiety. Overall a horrible sense of gloom and a feeling like I'm living life with a divers helmet on my head. To be honest I struggle to do justice to just how horrible the mental side is/was. 

I get muscle twitches. A nerve under my eye would pulse. My leg muscles would spasm uncontrollably. 

My hands shake, I thought I was possibly  early onset Parkinson's. 

I get dizziness especially on standing as I also get postural orthodontic tachycardia. Not sure what systems are involved here but I also get skipped irregular heart beats. I have had cardio worries but I think the chest pains I get are related to acid rather than neuro effects. 

 

Oh oh and optical neuropathy, I lose patches of vision in my eye for about a couple of minutes or so.

Theres other stuff if I start to think about it but that's most of the neuro stuff I think  

[GFinDC]

Hi Geoff,

Welcome to the forum!

Your bright objects on the brain-thing are often called UBO's or unidentified bright objects.  If you want to read more about them, Type UBO in the search box upper right side of the screen and click the little magnifier.  There are quite a few threads about UBO's and gluten ataxia on the forum.

Matt is right, the immune system kicks in to defend your body from attackers at very small amounts of exposure.  And the immune reaction does not stop 4 days later.  There will be elevated antibody levels for weeks to months after a gluten exposure.  Symptoms do not always correlate to damage being done.  Some people,with celiac have no symptoms when diagnosed and they are called silent celiacs.

The testing is generally 12 weeks of eating gluten for blood tests and 2 to 4 weeks for the endoscopy.  Personally I wouldn't do the gluten challenge because the damage to my body is not something I want to inflict.  The result is the same for me anyway, I can't eat gluten either way as the symptoms are too debilitating.

By the way, being overweight is not unheard of with celiac disease.  There are some threads about weight issues on the forum.

People often recommend taking B-12 for nerve issues.  You could try that to see if it helps.  Vitamin D can be helpful too.

[Ennis-TX]

I would also get the gluten ataxia reactions, the confusion and mind looping was maddening, like you thoughts would loop on one thing like a broken record and could not get off. You would go to do something you know you should be able to...but you mind just lapses and loops and you can never do it....random things from "how does that door open" to computer programing, simple math, working a microwave...odd and sometimes the simplest of things. I still have damage that prevents me from doing complex math, and any of the computer programing I went to college for...neurons never repaired from that damage I assume.

I have peripheral nurapahty and motor control issues also, these are the ones that still crop up from the tiniest contamination. Numbness in my hands and feet to temperatures and surface touch. More I am exposed it worsens the loss of control of my hands and last time I got straight up gluten in my food...I lost motor control and collapsed...only ever happened twice in my life.

[Geoff01]

On 1/6/2018 at 2:58 PM, Geoff01 said:

I'm male, 55yrs and of European background (NZ). I have lived in the Philippines for 15 years as a scientist/geologist.

A few years ago I noticed that i would have diarrhea immediately after breakfast which was toast, butter relish and cheese or jam and coffee. Not sure how long ago this started but maybe 3-4 years.  I went through a lot of this at other meals and was constantly feeling bloated and gassy. But I wasn't skinny. In fact I was rather overweight.

I've also had very slow peripheral neuropathy developing on the pad of my left foot as numbness since I was in my late twenties.  I have had this tested a few times in recent years as I started tripping at least once a year and spraining or breaking bones in my ankles. In opposite feet 5 years in a row near Xmas! Very annoying and embarrassing.

I was at home in NZ a year ago and talking to my sister who has Celiac Disease, diagnosed in her twenties. I came home and started reading about it (as it is genetic, siblings have a 1 in 4 or 20 chance to also have it) and saw that neuropathy may be caused by it. The gastro problems got worse but not extreme (except regular diarhoea and some constipation - but hard to pin down the causes). I went to a few doctors but none seemed to really understand what was going on or how to treat me.  My main cause for seeing them was to stop or reverse the neuropathy.  Then I saw a neuropathist recently and explained my theory that my neuropathy could be celiac related and could we find out.  He showed me that I couldn't balance on one foot with my eyes closed. Nerve conduction tests showed significant nerve damage, particularly in my lower legs but no ataxia yet (funny walk). He sent me for a brain scan and this shows that I have bright spots around the sinus' in my brain that are common in migraine suffers and 80 year olds!!! Also High CRP (systemic inflamation). but all glucose, thyroid, diabetes, alcoholism  other possible contributors were negative.

This started me on a bit of a panic searching for a cure on the web and in medical journals.  It seemed that if the neuropathy was clearly celiac related then a gluten-free diet would at least arrest it.  A direct link appears to be difficult to prove but I think it likely (Hope so because celiac disease is the easiest possible cause to treat).

I went on a strict gluten free diet in about June of last year and experimented with various foods as isolated experiments.  Milk is a problem. Cheese less so. so they had to go as well.  I'm still experimenting with beer.  Local SM Light seems ok in moderation but probably should go. Tsingtao and Corona is great with <10ppm gluten.  I actually quite like the Aussie Soy milk I can buy here.  I should say that the Philippines is a Celiac nightmare. They is only ONE health food shop that I know of that sells gluten free food and no-one (doctors, chefs) knows much about it so I have to be really careful when I go out.  I cook at home a lot and my wife is learning.

I went back home to NZ in September and had a celiac disease serum test. It came back negative but I hadn't felt up to doing a month eating bread and feeling sick. Since none of these tests were available in the Philippines, I had a DNA test.  It came back with Negative DQ2 and DQ8 and recommended that celiac disease was not possible, but that I had gene DQB1*02:02. The same test also showed that I also had DQA1*02:01.  Back to the research!  It turns out that 5.8% of diagnosed celiac disease sufferers have this Gene configuration and it is called DQ2.2 and recognised as a direct cause of celiac disease. It is also predominantly exhibited in men as opposed to DQ2/DQ8 which is F:M - 2:1. Other journals suggest that DQ2.2 may have a stronger link with neuropathy and non GI related celiac disease issues than DQ2/DQ8. From reading between the lines it appears that celiac disease caused by DQ2.2 may relate to delayed responses to gluten (me - 5 hours) rather than instant responses for DQ2/DQ8 celiac disease sufferers. This makes it more difficult to recognise and diagnose.

Now that I've been off Gluten for over 6 months, I'm noticing a much increased reaction when I get Glutened. I had some Lumpia (yummy mince, sprout mixture cooked in a crispy pastry shell) that my wife cooked, on 14th Dec, and was really sick for the next 4 days. I started a diary. I had the Lumpia on the 14th at 5pm.  By 11pm I had stomach pains, bloating and gas. The next morning I had diarrhea and gas. This lasted all day and stomach pains grew. by night I was very bloated and had constipation and stomach pains. I lay on the couch in a brain fog for the next 3 days with constipation, bloated and with strong stomach pains and flu-like rib and back pains. Didn't want to eat. Horrible.  Then 4 days later at a friends Xmas party I was into my 3rd fork of turkey and stuffing when my wife grabbed my hand and said stop. I hadn't even thought of the bread in the stuffing (Duh!). By the end of the party I was gassy and uncomfortable and sweating too much. Next - 4 more days on the couch feeling like death warmed up.  Over this 12 day period I lost 5kg mostly through not eating I suspect. I think, together with the gene test, this proves celiac disease and I don't think I'll be doing a Gluten challenge for the doctors.

I hope this description of my journey will help someone else. I think I understand how to keep myself healthy now, I bake my own nutty bread, Live on curries and chillis on rice, quinoa, millet and sweet potato and I've also stopped eating most meat (as in another experiment I cut meat for 2 weeks then had a meat meal and felt terrible). I eat fish and chicken but not every meal, often just vegetable (curry) and salads. I'm sure its different for everyone and the only way to learn what works is to get onto a bland diet for a while then run single meal or single ingredient tests on yourself.

Good Luck fellow Celiacs!

On furthermore reading and researching I realise that I’ve had Dermatitus hepatiformis at least twice in the last 9 years, both times I think before I started noticing celiac type gut reactions (diarrhoea, constipation, bloating, fatty stools).

Interestingly the first time was while I was very sick, The doctors thought dengue fever or some sort of weird rubella variant (had chicken pox as a kid and vaccinations) but I never got a confident diagnosis.  I was covered in a rash that became little pustules, started on my back, bum and elbows and was severely weak and and couldn’t think straight enough to work (on a computer) for 3 months.  I think this was the first expression of celiac disease or perhaps the celiac disease was started by my extreme reaction to this fever.

Has anyone else had such an extreme celiac reaction (DH, 2 week fever, weakness, extreme brain fog for 3 months) as part of a celiac reaction or was it likely dengue or rubella as the doctors thought that shocked my system and started my celiac disease.

PS. Been gluten free for a year (not including the odd beer and accidental glutening) and feeling really healthy, fitter and skinnier.

Cheers

Geoff