Probable Celiac - What?

[desirun]

I've just been informed my daughter has "probable Celiac" by our gastroenterologist.  I'm frustrated that we don't have a firm diagnosis. My daughter was sick with a virus or food poisoning a month ago, and since then has had intermittent diarrhea, abdominal cramps, headaches, peripheral neuropathy, and leg weakness. Her vitamin levels, CBC, chemistries, and inflammatory markers were all normal. Her two IGA totals were 238, then 233, normal range is 58-358. Her first TTG IGA was 46.3, second was 55.2, less than 15/normal. Her genetic cascade read "Permissive genes present, serology positive. Celiac disease probable. Biopsy may be appropriate." Her endoscopy was performed by a highly skilled GI at a very well respected Children's Hospital. 5 or 6 biopsies were taken. Her biopsies did not show the 3 disease characteristics. She only had mild-moderate increase in intestinal lymphocytes, but NO bilious blunting, and NO elongated glands. The GI says she has "probable Celiac." My daughter has been gluten-free since Friday and so far her symptoms seem to be resolving. Celiac seems likely, but it's not conclusive. I'm frustrated with the prospect of keeping her strictly gluten-free for life if we don't have a definitive diagnosis. I'm wondering if something else could have set off her system that will resolve over time? Also, we did see a neurologist as well who was not overly concerned with her symptoms. He felt she needed to be off of gluten to determine if another issue is factoring in. 

[Celiac's Wifey]

25 minutes ago, desirun said:

My daughter has been gluten-free since Friday and so far her symptoms seem to be resolving.

Hey,

I understand your frustration with how this disease is diagnosed, especially for kids, and I'm sure just about everybody on the board has had experiences of frustration with the diet and the lack of clarity surrounding so many of the associated symptoms. Even the best experts describe this disease as a "chameleon" and can admit that it is diagnostically difficult. In addition, some recent research suggests that the adaptive form of celiac disease might actually be triggered by a virus in genetically predisposed individuals so it is possible that the virus you described actually triggered celiac disease for your daughter :

Open Original Shared Link

I also know that they are continuing to make advances in the testing, including potentially being able to better test those already on gluten free diets - so maybe she could be effectively retested sooner than a lifetime. I believe the tests and diagnostic information for this disease will be substantially better five years from now than they are today.

I read your daughters symptoms and they seem serious. Peripheral neuropathy indicates that her autoimmune imbalance is attacking not just her gut, but also her central nervous system. (Celiac disease is a common cause of peripheral neuropathy). The headaches suggest that hypersensitivity to gluten may be affecting her blood-brain barrier, and affecting her neurological health as well. You also said that her symptoms appear to be resolving on the diet. As tough as the diet is, maybe that is the most important thing to know right now.  That and the reality that there is lots of medical evidence that having this disease and not appropriately treating it with a gluten free diet increases the likelihood of many many other horrible health complications, from major depression and anxiety to cascading autoimmune disease. Comparing the frustrations of the diet to those outcomes, maybe helps strengthen the resolve to keep the diet carefully in place.

Best wishes that your daughters health will continue to improve -- and know there are lots of places to find good tips and support for the diet. I'm sure others will chime in.

 

 

 

[desirun]

Thanks Celiac's Wifey, your response makes sense. Perhaps the gastroenterologist's insistence that she could only truly diagnose my daughter with an positive endoscopy really has me questioning things.  My daughter was almost symptom free as of yesterday since we eliminated gluten on Friday, I guess that should be my answer, but yet could it be something else? We initially wavered on completing the endoscopy, feeling we had enough information to believe she has celiac, but the GI insisted and we also read a positive biopsy increases gluten-free compliance.  Well, I guess we just have to use our best judgement and the knowledge we have...thank you for the encouragement.

[TexasJen]

This is from Stanford Medical school on the criteria for diagnosing celiac.

• The Open Original Shared Link of histologic findings has been used to grade celiac disease
  • Simplified systems (Corazza, Roberts, Ensari) may be more reproducible
    • Grade A/Type 1: increased intraepithelial lymphocytes but no villous atrophy
    • Grade B1/Type 2: villi still present but shortened 
    • Grade B2/Type 3: complete villous atrophy

Anyway, you can see from this, that she could still be categorized as Marsh Stage 1.

I've read that people with longstanding symptoms usually have some degree of villous blunting. Maybe if her symptoms were really triggered by being ill recently and she was sick for so short of a time, that could explain the lack of villous changes?

[ravenwoodglass]

You can retest her antibodies in 6 months or so. Her resolution of symptoms and decrease in antibodies is quite diagnostic.  She got caught at the Type 1 level, as posted above, and that was a lucky thing. Good to hear she is already improving. make sure you let other first degree relatives know to be tested if they haven't already done so.

[ironictruth]

Increase in IEL can be caused by other things but with positive antibodies and gene it sounds like early celiac. The diagnosis of "possible celiac" will likely turn to celiac when you see improvement on the diet. Folks always forget that is one of the most important criteria. 

I literally just typed this and scrolled up and read Ravenwoodglass' comment. 

Yup. What she said.