Dirk's False Positive Celiac Disease Diagnosis ... he does NOT have CD! ;-)

Summary: Dirk was diagnosed as age 2.5 with Celiac Disease based on an endoscopy ("gold standard") and subsequent improved health on gluten-free diet. At age 15, blood and genetic tests show that he almost certainly does not (and could not) have had Celiac Disease, plus he is able to consume gluten without any adverse reaction.

Dr. Alessio Fasano is the Medical Director of the Center for Celiac Research and a recognized world expert in CD. I've partnered with the CFCR for a number of years with my Controllable Christmas Lights for Celiac Disease which has not only increased awareness about CD, but raised $83,205 for further research into this malady.

Dr. Fasano was nice enough to review Dirk's medical history. His first comment is that the original pathology would have assigned a Marsh Score of 2 to the villi damage, which can suggest Celiac Disease, but is not conclusive. His expert opinion is that combined with the negative finding on the HLA DQ2 & DQ8 means that is extremely unlikely that Dirk has (or had) Celiac Disease. Dirk's ability to tolerate Gluten (he loves eating it!) and negative result on the Antibody tests after a month-long gluten challenge is further secondary evidence to support the conclusion that the original diagnosis was a false-positive. This is a bit ironic since Celiac Disease is often un/mis-diagnosed (i.e. false-negative) and Dr. Fasano led the largest epidemiology study performed in the US that demonstrated the prevelence of CD is almost 1% - much higher than originally thought.

Dr. Fasano believes that Dirk had Gluten Sensitivity, which can present similar internal & external symptoms as Celiac Disease, although it is not as damaging to the villi as CD which has a characteristic Marsh score of 3 or higher. Consistent with that diagnosis is that Dirk improved after being put on a gluten-free diet. While one does not outgrow Celiac Disease (it's an auto-immune disorder), it is possible to outgrow Gluten Sensitivity and/or have it go dormant. Finally, he said that Dirk should be aware that Gluten Sensitivity can re-emerge after months or even years.

Dr. Fasano concludes that it is extremely unlikely that Dirk ever had Celiac Disease and he should continue eating gluten.

Dirk's Medical History

1998_05_28: Dirk was born at 38 weeks (had an initial Apgar score of 1) but small & light at 17 3/4" and 4 pounds, 14 ounces.

Dirk was breast-fed and tracked the low-end of the height/weight charts for the first six months, but after introduction of solid food, he stalled out. He had frequent bouts of diarrhea & vomiting and developed a real aversion to food. It was a major struggle to feed him and over the course of 2 years, he fell further behind on the weight charts and was missing developmental milestones. Numerous tests were done including two multi-day overnight stays at Children's Hospital where after many tests, they could only say "failure to thrive" ... which is a catch-all meaning they don't know what the issue is. By late 2000 (Dirk is now 2.5), we ended up at Rocky Mountain Pediatric Gastroenterology (RMPGI) who recommends a "top to bottom scope."

2000_12_14: Dirk has an Endoscopy (surgical report) and the Pathology report (also at bottom of webpage) has a concluding handwritten comment (by the RMPGI doctor?) that "Celiac Likely." This seems to be based on the pathologist's finding of "Duodenal Mucosa with moderate acute duodenitis. [underlined]Mild alteration of villous architecture with increased intraepithelial Lymphocytes" and their concluding comment is "The duodenal biopsy shows an acute duodenitis with villous architectural abnormalities. Possibilities of infection, nearby ulcer, or less likely [my emphasis], celiac disease should be considered. Correlation with serological studies and endoscopic findings may be of help." Unfortunately, no blood was drawn for possible serological correlation (real bummer!), but GI Doctor recommends we try a gluten-free diet to see if any improvement. We are getting increasingly desperate for some sort of diagnosis, and this seems to make sense. So we read up on gluten free and starting buying those foods - much harder back in 2000 than today! We toss all our wheat, barley, rye, and & oats, and institute a strict gluten-free diet for Dirk that will persist for almost 13 years.

2001_01_25: Dirk gets a blood test that includes Celiac testing for IgA and IgG. The IgG numbers suggest Celiac Disease, but the IgA numbers are negative. But note that Dirk has been on a gluten-free diet for over a month now ... although we are told that IgG has a much more delayed response than IgA when gluten is removed.

Dirk seems to improve slightly in the next six months - getting "up" to just below the weight charts. He still has serious food aversion (this will persist for years - even after going to feeding clinics, etc.) but after an exhausting numbers of tests and doctors visits, we are hopeful we have a "solution" for Dirk - anything is better than "failure to thrive!"

2001_07_12: RMPGI recommends a followup scoping to see how he is doing - here's the surgical report. The pathologist's findings are "Duodenal Biopsy with intact crypt and villous architecture. No evidence of surface alterations, infections organisms, or significant inflammation (see comment)" ... which is: "No diagnostic evidence of celiac disease is identified in the current biopsy." A blood test is also done at the same time and the IgA results are again negative for Celiac Disease. RMPGI says the healing of the villi plus Dirk's improvement after going gluten-free confirms the diagnosis of Celiac Disease. That too makes sense to us.

Over the next 12 years, Dirk's weight/health improves as he continues the gluten-free diet. Note that the endoscopy is considered the "gold-standard" test for Celiac Disease ... plus Dirk had improved after removal of gluten! But as I start to point out after about age 10, medical science is never 100% certain and it would be nice now that he is "stable" and older, to consider a "gluten challenge" to re-affirm the diagnosis ... since even today (with improved labeling, etc.) going gluten-free has a major lifestyle impact. Note that some people think you can outgrow Celiac Disease, but the medical literature says this is not true. From age 10-15, Dirk only has a few episodes of throwing up ... but it's not clear to me if these are reaction to gluten or just the occasional "normal" food poisoning. For instance, he got ill at a restaurant that served lobster with bread crumbs ... but nobody else ate it. And he had an upset stomach for several days at an overnight summer camp ... where food was prepared by teenagers who probably did not practice good food hygiene. While we were rigorous in preparing food and going out/traveling, I could not believe we were that "good" given so few adverse reactions.

2013_07_15: A friend brings Wendy her favorite Rainbow Cookies back from a trip to Boston ... and Dirk was eyeing 'em. I suggested to Dirk & Wendy that if he wanted to try 'em, we could see how he reacts - "if there was ever a time to eat some gluten, then these rainbow cookies would be worth it" - food rules in my house! ;-) Rather than have him try it that evening (and possibly be ill overnight), we decide to wait until the next morning.

2013_07_16: Upon having a (worried!) nibble, Dirk said they were great (I said go ahead and have two!) and he had no "classic" reactions such as vomiting, diarrhea, etc. Later that day, I said "HEY, I'm making a (regular) pizza - want to try some?" He ended up eating half of it - again, no reaction the rest of the day. That night, I ask Dirk & Wendy if they wanted to do a "full-on Gluten Challenge" ... which is basically having gluten (and lots of it if you can tolerate it) every day. You are looking to see if any obvious reactions, although Celiac can be asymptomatic while damage is being done "silently" to your internal GI. At the end of that period, you do the blood tests (which have improved) and optionally another endoscopy. Dirk does a full-on gluten-fest for a month - eating lots of bread, cupcakes, doughnuts, pizza, etc. etc. every day ... with no adverse reactions!

2013_08_16: Dirk has blood drawn and tests are ordered for both the antibodies (IgA and tTG) and also genetic testing for the HLA-DQ Alpha 1 & Beta 2 (DQ2 & DQ8). If either DQ2 or DQ8 is present, you MAY have Celiac Disease (or can eventually "get") ... but negative results for both DQ2 and DQ8 is considered strong enough evidence alone that Celiac disease is not present (or even possible) ... although as with all medical science, it's not 100%.

2013_08_23: We got Dirk's Celiac tests back today - diagnosis is "Celiac Disease Extremely Unlikely" - WOW!!!

The IgA results were 189 (normal age-specific range is 52-319) and the tTG results were "<1.2" with anything below 4.0 resulting in a diagnosis based on serological results alone of "Celiac Disease very unlikely" per the Mayo Celiac Disease Diagnostic Testing Algorithm. In addition, the generic testing showed DQ2 and DQ8 are not present ... so the summary comment was "Permissive Genes Absent and Negative Serology." Finally, Dirk has not had any adverse reactions from his full-on gluten-fest in the last month ... so it seems with very high degree of confidence that he does NOT have Celiac Disease (i.e. original diagnosis was a false positive) and I don't see any reason to do an invasive endoscopy.

Family History: Dirk's younger brother Kyle (born March 6th, 2001) was also diagnosed with Celiac Disease based on (marginal) blood test results and behavioral changes with introduction of gluten as an infant. Because Dirk was diagnosed with Celiac and there is a genetic propensity, we didn't feel the need to do an invasive endoscopy and also put Kyle on a gluten-free diet. However, he also underwent the same "Gluten Challenge" and his blood results were similar to Dirk's - negative on IgA & tTG and absence of the DQ2 & DQ8 genes. Plus no adverse reaction to a month long gluten-fest. Dirk & Kyle's parents are not diagnosed with Celiac and have eaten gluten all their life. Both of Wendy's parents (and her) have had bouts with cancer.

What Happened?
The medical literature says you do not outgrow Celiac Disease, so I can't help but wonder if the original diagnosis was mistaken ... especially now that I re-read the pathologist's report which says Celiac disease is "less likely." However, Dirk did improve after going on a gluten-free diet, so that aspect is puzzling. While we probably will never know, I'd be curious to know what he did have?!?
Update: Per Dr. Fasano's analysis at the top of the page, Dirk almost certainly had Gluten Sensitivity.

Regardless, there is now overwhelming evidence that Dirk does not have Celiac Disease.

The December 14th, 2000 Pathology Report that initiated the Celiac Disease Diagnosis
As noted, Pathologist comments "less likely, Celiac Disease" but handwritten note (by GI Doctor?) says "likely Celiac"

2000/12/14 Pathology Report