the patient celiac

Celiac Disease: 10 Things for Doctors and Patients to Know

11 comments July 25, 2014

I came across this list on PubMed the other day, and although I posted it on Facebook, I thought it might be worth sharing on here for everyone else. It comes from an abstract titled “Celiac Disease: Ten Things that Every Gastroenterologist Should Know.” It was written by Drs. A. Oxentenko and J. Murray (from the Mayo Clinic) and published online in the journal “Clinical Gastroenterology and Hepatology" on July 19, 2014. I usually don’t like "Top 10" lists, but it has some good information for both gastroenterologists and their patients. Just for clarification, the quoted statements come directly from the publication and the words in italics are mine.

  1. “The IgA TTG is the single best serologic test to use for the detection of celiac disease (CD).” Most celiac antibody panels (blood tests) include the TTG IgA. However, it is possible for a person to have a negative TTG IgA and still have celiac disease. False negatives can occur in small children, people with a condition called selective IgA deficiency, and in people who are tested after already starting on the gluten free diet.
  2. “Celiac disease can be recognized endoscopically, and water immersion enhances villi detection, although a normal endoscopic appearance does not preclude the diagnosis.” If an endoscopy is done to look for celiac disease, biopsies also need to be done.  The damage from celiac disease is often microscopic. I have met people whose GI doctors did endoscopies and told them they did not have celiac without doing any biopsies!
  3. “It is recommended that four biopsies be taken from the second part of the duodenum, and two bulb biopsies taken at the 9 and 12-o'clock positions to maximize the sensitivity for histologic confirmation of CD.” The intestinal damage from celiac disease can be patchy, so if not enough biopsies are done, it can be missed.
  4. “Consider serologic testing of first-degree relatives, patients with type 1 diabetes, Down's, Turner's and William's syndromes, as well as those with premature osteoporosis, iron deficiency, abnormal liver biochemistries and other manifestations of CD.” First degree relatives are parents, siblings, and children of those with celiac disease.  Screening in high-risk people also needs to be repeated periodically, as celiac disease can develop at any time during one's life.
  5. “Patients already on a prolonged gluten-free diet (GFD) should be tested for the presence of HLA DQ2 or DQ8, thereby avoiding the need for further evaluation of CD in non-allelic carriers.”This can be very helpful in people who go GF prior to being tested for celiac disease. If one does not carry the 2 main genes, the chances of having celiac disease are very low (between 1-2% of celiacs are DQ2 and DQ8 negative) and non-celiac gluten sensitivity is much more likely than celiac. 
  6. “The basic treatment of CD is a strict, life-long GFD, enabled by an expert dietitian.” Don’t think I need to explain this one!
  7. “Newly-diagnosed adults with CD should be assessed for micronutrient deficiencies (iron, B12, folate, zinc, copper), fat soluble vitamins deficiencies (vitamin D) and bone densitometry.” Osteopenia (low bone mineral density) is rather common. Vitamin and mineral levels should be assessed at follow-up appointments, as well, to make sure there has been improvement.
  8. “All patients diagnosed with CD should have clinical follow-up to ensure response and adherence to a GFD.” From what I have read, this should happen between 6 and 12 months after going on the gluten-free diet.
  9. “In those with persistent or relapsing symptoms, the robustness of the original diagnosis should be reviewed, gluten exposure sought, and a systematic evaluation for alternative and associated diseases.” I was given the opportunity to write about this problem, which is called nonresponsive celiac disease, in Gluten-Free Living magazine. You can find my article here. Although the most common cause of continued symptoms is accidental gluten exposure, In some cases people do not get better because they were misdiagnosed with celiac disease in the first place!
  10. “Evaluate those with refractory disease for malignant transformation.”  People with refractory celiac disease are at risk for lymphoma. This is why it is important to get medical follow-up if you do not get better on the gluten-free diet.
Thanks for reading! I hope you are all having a nice summer and I really appreciate your comments, emails, questions, etc. Please keep them coming!

In reply to Jess.
Yes, we are all gluten free at the house (my husband is DQ2.5 homozygous and had high liver enzymes for years, seronegative for CD, therefore his GI, supposedly a CD expert, told him that he didn’t know what was wrong with him- not even once suggested a biopsy; well, I suggested to him 6 months on the diet, and guess what, his liver panel became normal). Funny thing is, when my dad was on the hospital with major gastroenteritis, he was scheduled for an endoscopy with the same doctor who did mine… I put my foot down and they had to find another doctor for the procedure, to whom my father insisted on the need for biopsies; the result was “high CD3/CD8 count compatible with celiac disease”!
7/26/2016 3:03:33 PM
In reply to Jess.
Your work is great! Please know that you’re helping people. I often translate and repost your posts, and they are appreciated. Thank you!
7/26/2016 3:02:39 PM
Irish Heart
In reply to Jess.

but you ARE making a difference and you do reach people. We all do–any one of us who pays it forward and educates.

Keep doing what you are doing, My celiac GI is reading your posts because I send them to him!

7/26/2016 3:01:58 PM
In reply to IrishHeart.
Hi IH,
It’s absolutely incredible to me that you were deemed to be anorexic. I don’t think I had ever heard that part of your story. Thank god that you were persistent in finding answers.
I’m under the impression that most doctors (and patients) do not realize that the seronegative rates can be so high. And the people who need to know this information the most are the ones who are walking around with undiagnosed celiac disease.
Sometimes I wish that I could reach out to them somehow…the only people who read my page already know that they get sick from gluten.
7/26/2016 3:01:15 PM
In reply to Molly (Based on a Sprue Story).
HI Molly,
I agree with you about how important it is to be an empowered and educated patient, especially when it comes to a disease that can be so challenging to diagnose, like celiac disease.
I suspect that the rates of celiac diagnosis will skyrocket if/when ALV003 or larazotide acetate are FDA approved and on the market….
Hope you’re having a good week!
7/26/2016 3:00:55 PM
In reply to Dhead.
Hi D,
I will definitely check out your link as soon as I can.
How is your challenge going?
Thanks for sharing!
7/26/2016 2:59:29 PM
In reply to Lucente.
Hi Lucente,
I am so sorry that this happened to you. The sad thing is that I have heard from many who have had the same experience. The good thing is that, if you are the Lucente I am thinking of, that you’ve figured out that you need to be gluten-free. I hope you and your son are doing well.
Thank you for taking the time to comment!
7/26/2016 2:59:12 PM
Irish Heart
Excellent article, as always, Jess.

I am one of those who is seronegative (happens in 6-15% of celiacs, i believe ) and my original GI doc (considered “one of the best “in the Albany area at the time) also did an endo without doing a biopsy back in 2009. He saw inflammation but failed to biopsy me. Declared me “anorexic” and suggested Boost supplements. (I did not know the diagnostic protocol back then)
Lost another year going downhill.

With two copies of the DQ2 gene, I am in the highest risk pool. Finally, the biopsy was done by my new GI doc…well after the fact, but there was a ton of intestinal scarring and very mild marsh 1…and that was 3 years after being GF. This is considered “healing”. No active celiac. yaay for me!!

But, I heard it many times as I was dying a slow death back in 2009, 2010…: “you don’t have celiac because your tests said so. ” WRONG!

Diagnosis loopholes can cause so many problems.
7/26/2016 2:58:56 PM
Molly (Based on a Sprue Story)
Thanks for sharing! It’s important for doctors to know all of this but also very important for us patients to be aware and to feel empowered to check that all the proper tests are being done. I think everyone about to get an endoscopy, no matter how capable their doctor, should speak up and ask how many biopsy samples the doctor plans to take–and that they’re planning to take any at all. Otherwise it can be a real waste of everyone’s time and energy. Sorry to hear it happened to you even though you requested biopsies, Lucente! That’s so frustrating.
7/26/2016 2:58:35 PM
Very informative article! I wrote an article that has been getting a good amount of different viewpoints and opinions. It is about celiac diagnosis & the gluten challenge being considered a form of malpractice. Some are even calling it criminal. Take a look and let me know what you think…

7/26/2016 2:58:10 PM
I’m one of those whose doctor decided during the endoscopy that no biopsies where needed because all seemed well to the naked eye! Even though I had specifically asked for biopsies, following my son’s CD diagnosis.
7/26/2016 2:57:20 PM
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