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Jane Anderson

Do You Have An Official Diagnosis? Do You Wish You Had One?

By February 10, 2014

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A reader contacted me with a common dilemma: she had gone gluten-free (with great results), but now she wanted an official diagnosis of celiac disease. What should she do?

Interestingly, her physician had told her that celiac testing had improved so much, she didn't need to go back to a gluten-containing diet for it to be accurate. This is a common misconception, even among doctors (who really ought to know better). Regardless of what anyone tells you, you need to be eating gluten for any testing (celiac or gluten sensitivity) to show true results.

For more on this, see: Why do I need to eat gluten for celiac disease testing?

Nope, getting a diagnosis once you've started the gluten-free diet involves eating gluten again in the form of what's called a "gluten challenge" ... and while some people sail through their gluten challenges with minimal symptoms, others find it so miserable that they can't finish. (Your level of symptoms has absolutely nothing to do with whether you'll ultimately test positive or negative.)

For more on this, see: What's involved in a gluten challenge?

Ultimately, I could help the reader with information on what would be involved in getting a diagnosis, but I couldn't help her make her decision — there's no right or wrong answer. Everyone in this situation needs to balance their "need to know" against the symptoms they might experience in their effort to get that official diagnosis.

Do you have an official diagnosis? Do you want one? Share your thoughts in our poll:

Keep up with the latest in the celiac disease/gluten sensitivity world -- sign up for my newsletter, connect with me on Facebook and Google+, or follow me on Twitter - @AboutGlutenFree.

Photo Getty Images/Jonnie Miles

Comments
February 15, 2013 at 2:13 pm
(1) Marilyn says:

After living with “symptoms” for years, migraines, skin issues, constipation to name a few, In my late forties I developed a blistery rash on my buttocks. My neurologist suggested investigation. That’s when I found “Gluten”. I stopped gluten and never looked back! I did have a blood test after I stopped gluten so my test was negative. I adhere to a mostly Mediterranean diet and I have none of these problems anymore unless I get it accidently.

February 15, 2013 at 2:19 pm
(2) Michael says:

Jane, I would like to point out that according to the paper “Spectrum of gluten-related disorders: consensus on new nomenclature and classification” written by an international panel of celiac experts, Anna Sapone, Julio C Bai, Carolina Ciacci, Jernej Dolinsek, Peter HR Green, Marios Hadjivassiliou, Katri Kaukinen, Kamran Rostami, David S Sanders, Michael Schumann, Reiner Ullrich, Danilo Villalta, Umberto Volta, Carlo Catassi and Alessio Fasano, and published a year ago, a biopsy is not necessary in all cases for a celiac diagnosis.
“…the diagnosis of CD is confirmed if at least four of the following
five criteria are fulfilled:
1. Typical symptoms of CD
2. Positivity of serum CD IgA class autoantibodies at
high titer
3. HLA-DQ2 and/or HLA-DQ8 genotypes
4. Celiac enteropathy found on small bowel biopsy
5. Response to a GFD”

If you have had severe abdominal and any neurological symptoms, I recommend against a gluten challenge if you have been gluten-free, with no mistakes for two months or longer. If you have been gluten-free with no mistakes for 6 months or more, I severely caution someone who is convinced they have celiac against a gluten challenge. It can be too damaging to extra-intestinal organs.

February 15, 2013 at 4:48 pm
(3) Eileen says:

My short answer would be, yes, get a diagnosis even if there’s some short term pain, so long as your health care team feels the timing is OK & you have proper supportive care.

My DH has had a biopsy-confirmed “official” celiac diagnosis for more than 35 years (since his teens) and we’ve found many medical, education, insurance and related situations where accommodation and/or treatment coverage would have been impossible without it. It’s been challenging at times even with the diagnosis because he was so young & sick when his near-death crisis (due to severe intestinal shutdown & subsequent malnutrition) occurred, so his recall is sketchy. His medical records weren’t saved at home, never mind passed on to him. We tried to piece them back together but the hospital lost their copy to an archive fire years ago, and his original doctors are no longer practicing so their records have long been dispersed.

I have a different unusual & severe illness myself and often have to educate new care team members about the illness. I encourage everyone with any severe or chronic illness is to get clear, justified diagnosis and/or medical opinions then keep copies of all the records you can. The less common or more atypical your symptoms the more important it is to have detailed documentation. It’s not so much an matter of gluten issues per se, but of having all you need to back you up & save time when you try to get MDs & others to think of zebras as well as horses.
(more in next comment)

February 15, 2013 at 4:50 pm
(4) Eileen says:

(continued from previous comment)

I can’t speak to whether or not a gluten challenge is necessary for complete testing accuracy. I’ve read in the past that for some folks even with a glutenous diet a single test may not show a clear result the first time, so repeats may be necessary. I think if it were me I’d work with your health care team to develop & map out a diagnostic plan. If you decide to have a first test series while you’re still GF I’d make sure it’s noted that the test was done on a GF diet, not a regular diet so if the results are negative they’re not valid as ruling out celiac or non-celiac gluten sensitivity.

FWIW, diet & medication holidays are among a wide variety of medical challenges that may be called for if the situation warrants it, and aren’t necessarily poor care or a sign that your team doesn’t believe you. I’ve been through several and have found the key to a good outcome is having a clear, frank discussion with your care team & family about how to handle adverse events, including a simple symptom relief flow chart & quick response plan in the event it’s needed. If your team downplays the possibilities or is unwilling to set-up or follow through on such a plan I’d get with a team who’s willing & able to handle the preparation & follow through- including after care- before I went into a challenge.

February 15, 2013 at 5:02 pm
(5) DHonly says:

The skin biopsy came back positive for dermatitis herpetiformis, and a genetic test showed I have the gene for celiac. I have had conflicting medical opinions about whether I do have celiac or should go for more testing. Some people think DH absolutely confirms celiac while others say that DH could be from something else. I do not want to eat gluten again for a test because it takes SO LONG for DH to go away. I just wonder if there could be other damage to my system I should know about. In your opinion, does DH mean I have celiac?

February 15, 2013 at 7:45 pm
(6) celiacdisease says:

If you have positive celiac blood tests, then yes, you have celiac disease. See: http://celiacdisease.about.com/od/faqs/f/If-I-Have-Dermatitis-Herpetiformis-Do-I-Also-Have-Celiac-Disease.htm. If you have negative blood tests, then you could consider going back on gluten (!) in order to have an endoscopy and biopsy done. But if I were you, I wouldn’t do that — you have the gene, you have DH, I would assume you have celiac.

Jane

February 15, 2013 at 7:35 pm
(7) Lisa says:

My daughter and I were lucky. We were actually diagnosed with celiac disease the first time we took the test. I tested my 2 sons when we were diagnosed. They came back negative. A year later, my oldest son’s body was shutting down on him. He was gaunt, had extremely low vitamin D, iron deficient, low white blood cell count, and thyroid problems (classic signs). I had him tested again and it was positive. He was the child I never wanted to have this disease because he was such a picky eater. I didn’t know it then, but after lots of research, “picky eating” was only part of his diagnosis due to celiac disease. He had Asperger’s Syndrome. This explained the way he was from about 2 1/2 years of age to present. A lack of nutrients to the brain is capable of doing anything. There are over 300 symptoms of celiac disease. Now lets get to the “gluten sensitive” part. My youngest son was having issues with constipation (family history). I had him tested for the second time. His results came back as “gluten sensitive”. With our family history it is pretty evident that he has celiac disease. His blood work came back just like my oldest sons. His antibody testing failed to detect his disease. Upper endoscopy biopsies are not that reliable either. Doctors need to realize this. I don’t believe in gluten sensitivity. If you have problems with gluten, you have celiac disease. For the people that believe in gluten sensitivity, they are still susceptible to the over 300 symptoms…physically and mentally.

February 15, 2013 at 9:57 pm
(8) Emily says:

My skin biopsy tested positive for dermatitis herpetiformis, and the blood test showed I have the gene for celiac. Since then I’ve had conflicting medical advice about whether I should get additional testing, whether DH confirms celiac or is unrelated. I am not interested in eating gluten again because DH takes SO LONG to go away. I do not seem to have digestive symptoms although certainly my digestion is better by avoiding gluten. In the absence of helpful medical advice, I wonder are there other reasons I should go for further testing? Should I just take care of myself with a gluten-free diet or are there other medical issues I should be paying attention to?

February 16, 2013 at 8:41 am
(9) Emily says:

Sorry to post twice. The first comment wasn’t there when I came back to check but after I wrote the second: there was the first! I appreciate your reply and the link.

February 10, 2014 at 10:21 am
(10) Danie says:

Every time I read that one has to go back to ingesting Gluten in order to get good Celiac test results, I cringe and my skin literally crawls with anticipating pain….yes, just thinking about coming in contact with Gluten freaks me out. The pain I experience when accidentally glutening myself is so immense, that I couldn’t bring myself to do it purposely.

So what to do????????

February 10, 2014 at 8:56 pm
(11) Sarah says:

I believe I have celiac disease but am very frustrated that tests have missed it. That being said, I would NEVER go back on gluten to find out. Besides, the tests seem so hit-or-miss that it may still not be caught. I finally went to a celiac specialist in Atlanta who believes I’m seronegative celiac due to a very low IgA. She said a gluten challenge would leave me half-dead. I’m hoping for a reliable test to be developed that won’t rely on gluten damage being present in order to be accurate. I would definitely request such a test should one become available. Until then, the verdict of the celiac specialist will have to suffice.

February 10, 2014 at 9:29 pm
(12) TravelCeliac says:

Try this as an analogy:

Doctor: So you think you have an allergy to bullets?

Patient: Yes. It hurts like h*** when I get shot.

Doctor: Do you have any bullets in you now?

Patient: No, I’ve been avoiding being shot! I hate it!

Doctor: Well, the only way for us to know if you are truly allergic to bullets is for you to go back to being shot, and then we test you. Here’s a gun. You only need one or two bullets a day for a week or so, and then we’ll do the tests.

Patient: Are you kidding?? I’ll be dead!

Doctor: Oh, pish-posh. If you want a REAL diagnosis, this is the way.

Patient: Ummmm… yeah; no. <sound of feet and closing door>

February 11, 2014 at 6:45 am
(13) celiacdisease says:

@TravelCeliac :)

February 11, 2014 at 1:55 am
(14) eric t says:

I was tested after going gluten free for about a month . not sure of the exact test that was done but in any case it came back as negative. regardless of this test I will never have gluten again as my severe skin condition that was diagnosed as psoriasis has cleared. I was going for ultra violet light treatments and prescribed topical cortisteroids with little relief. The doctor was hinting at a systemic immune suppressant such as embrel or stillara. I am so glad I found out about gluten before going down that shady road of prescribed drugs.For my size the cost of stilara would have run around 30K per year and embral about 15 I beleave.Not to mention the damage to the immune system.Also I had persistent diarrhea.NOW MY DIGESTION IS FUNCTIONING VERY WELL. oops did I yell that out loud LOL.

February 11, 2014 at 10:51 am
(15) Debbie F. says:

Why would I want to give a Doctor another reason to tell me I am crazy!! Had the antibodies test for CD and it was negative. I gave up gluten almost a year ago and I feel so much better. I may not have CD but I am positive that I have a sensitivity to gluten.
I will never, to best of my ability, consume gluten again. I do not need to eat gluten to confirm that I should’nt. That makes no sense to me, you know your body better than anyone. The tests are never 100% accurate
but how you feel is always the best test.

February 11, 2014 at 1:16 pm
(16) Trudy says:

IJust like others have mentioned here, I don’t need to go back on gluten to know that it’s like death for me. But it would be able to have a positive diagnosis, because friends and family who are not familiar with the issues, symptoms, etc, are so much more accepting when you say, ” I have an official diagnosis. My doctor has put me on a strict diet.” But I guess I can just fib that and it will be just as effective, because there is no way that I am ever going to eat gluten again if I can help it!

Travel Celiac – like your story!

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