Need Advice On Understanding Endoscopy, What Tests To Get

[lucybear]

My son had an endoscopy at 10 months of age to look for damage from reflux. The doctor found inflammation throughout the esophagus without ulcers or erosions. His pathology results that came back a week later said this.

Final Diagnosis: Mild increase in intraepithelial lymphocytes. See comments.

Comments: The duodenal biopsy (part shows increased numbers of intraepithelial lymphocytes; however, the lyphocytes do not appear to be concentrated within villus tips. There is a subtle suggestion of villous blunting. While the changes appear relatively non-specific, the possibility of an early manifestation of celiac sprue cannot be competely excluded. Clinical and serologic correlation is necessary.

Now, he was 10 months old at the time of the biopsy. He was exclusively breast fed at the time, and was not successfully eating baby foods. Every time we would attempt to feed him he would gag until he threw up. He was having a difficult time gaining weight, and I was having to pump and add calories to my breast milk, and then bottle feed it to him. And he was tested for allergies through a blood test at about 7 months of age, and he had a positive to oats. So, we were only attempting rice cereal, but not very successfully. So, he would have only been exposed to gluten from my diet. The GI doc had us do a blood test (only tested (tTg) which came back negative at 1 with 0-3 being considered negative. We were told he did not have Celiac. No one mentioned it was something we should reconsider if he continued having problems. I just found the comments when I went on Friday and requested his notes from the surgery.

He is now almost 2 1/2. He is having problems with extreme fatigue and weakness. He was also just diagnosed with anemia, and started on iron supplements. Our pediatrician is sending us to a neurologist because his weakness and fatigue is not responding to therapy. I was just diagnosed with a vitamin D deficiency, and am seeing a neurologist to try and find out why I keep having peripheral neuropathy in my feet, legs, and face. I also have tons of gi symptoms that have always been blamed on endometriosis. I also have a history of infertility, and had a miscarriage due to a blood clotting problem. So, as I started doing research to try to find out what might be to blame for each of our symptoms, I found that Celiac could explain all of BOTH of our symptoms. That was not something I had ever considered. I hadn't even mentioned to my son's pediatrician that I was having any problems, as they did not seem related.

My neurologist told me that Celiac was just something people read about in Reader's Digest and were told to ask their doctors about it, but that it was an extremely rare disease. (Am I going to have to keep having this interaction with physicians?) He finally agreed to order a Celiac panel on me to appease me, but said he really thought it much more likely that I was diabetic. My diabetes test is back and negative. My Celiac blood work is still pending.

My son's pediatrician felt that we should definitely re-do his bloodwork, that he might have had a false negative. She has just ordered the Celiac Panel and a CBC. Is there anything else I should ask her to order? It seems like since he's not even 3 that we might should ask for a gene test for him?

Also, what do you think about the comments from the biopsy? Seems to me that those findings are much more reliable than the blood test, and since we've seen damage and the IEL were there with a subtle suggestion of blunting and now we're seeing clinical indications, maybe we just go gluten free and not worry about confirmation through blood tests? And what if they want to repeat the endoscopy. Should we do that? This is a lot I know, but I'm really feeling overwhelmed myself and all alone in this.

Thanks so much!

[Ursa Major]

Anemia and weakness are two very common celiac disease symptoms. So is a vitamin D deficiency, and all the other problems you are describing in both you and your son. That he even at the age of 10 months already had subtle blunting of the villi indicates that by now it may be severe.

Personally, no matter what the bloodwork for either one of you says (it is very unreliable in young children, and not overly reliable in adults, either), I would try the gluten-free diet for both of you, to see if you'll improve. I can just about guarantee that you will.

And while you are at it, you would be well advised to also eliminate all dairy and soy from your diets as well, as most people with celiac disease can't tolerate either (at least not for a while, until the villi heal).

I hope the two of you will feel better quickly, once you start the diet! And you might as well start now, no need to wait for the results to come back first.

[Guest elysealec]

Your doctor is not informed about celiac disease. I have found that to be the case among many in the medical profession. That is why this disease is so under diagnosed. My daughter and I both have celiac dsease. Her only symptom was she was very emotional. Mine was thought to be acid reflux, although I had ongoing problems with anemia in college. Luckily, I saw a GI who was not looking for celiac disease, but found it. I tested all my children. My daughter was diagnosed via bloodwork and biopsy at 7. Her extremely emotional behavior was gone after a month of being gluten free. We now see Dr. Alesio Fasano at the University of Marland Celiac Center and he strongly advises a confirmed biopsy diagnosis. My 8 year old niece was having leg pain last spring and her doctor had told her mom their was no way it was celiac disease. She found another doctor and her daughter is now also biopsy confirmed and doing much better on a gluten free diet. You are your own best advocate. Do what you feel is right. Good luck.