When we first suspected celiac disease we went through the normal protocols. First we tested for HLA-DQ2 and HLA-DQ8. My son had two copies of each gene meaning that each parent had both DQ2 and DQ8. This is as susceptible as a person can possibly be genetically.
Then we had him tested for an IgA reaction. We were warned that it might not be valid since he was already gluten free. Where normal was between 0 and 10 his number was 90. Even without known gluten in his diet he was still off the chart.
As far as I was concerned we were done. He had every last symptom mentioned in the medical texts down to the canker sores. He had four out of a possible four genes. His autoimmune reaction was so high that it came back from the lab with a special note, and his symptoms improved dramatically within three weeks of going gluten free.
Yet, the doctor wanted me to put him back on gluten for two months so we could do a biopsy to prove he had celiac disease because without a biopsy they could not be certain.
Frankly, I thought this was ridiculous. It was like x-raying a compound fracture to see if it was broken. If you have mind numbing pain and your arm bends in a place where you do not have a joint than an x-ray for diagnosis is redundant. That is how I felt about a biopsy. He had all of the classic symptoms. He had all of the possible genes. He had a huge auto-immune reaction. He drastically and measurably improved within weeks of removing gluten and dairy from his diet. What exactly was still in doubt? Why would I cause my child pain and distress for evidence of something that seemed rather obvious.
Yet I got the speech about how without the biopsy they would not give me a firm diagnosis.
Fortunately things have changed in the past three years.
This July the European Journal of Pediatrics published an article about proper practice in pediatric patients who are suspected of having Celiac Disease that stated “Small-bowel biopsy is no longer deemed necessary in a subgroup of patients, i.e. when all of the following are present: typical symptoms or signs, high titres of and transglutaminase antibodies, endomysial antibodies, and HLA-type DQ2 or DQ8.”
Thank you pediatricians of Europe! Now we just need to get the doctors here to catch up. As much as I love my American doctors, you will notice something most American celiac specialists, from Fasano to Guandalini, to Greene to the guy at the Mayo Clinic all have.
They have accents. Europe is so far ahead of us on this front that our experts are imported.
So if you are trying to get a diagnosis without general anesthesia and without needing to reintroduce gluten, you may want a copy of this paper which you can find here.