Saturday, July 7, 2012

Positive Celiac Disease Blood Test, Negative Genetic Test

The NFCAhas a wonderful website set up to educating the public about Celiac Disease and making sure that those who have been diagnosed are compliant with their diet and able to work through any issues that may arise. On their website, they have a section for parents where you can submit a question to a pediatric gastroenterologist. You can find more questions with answers here.

Q & A from NFCA

Positive Celiac Disease Blood Test, Negative Genetic Test

Question:
Hello, I was diagnosed with celiac 2 years ago. First by blood serum, then by biopsy. Both of my children were tested and had positive high blood serum tests; however, the child specialist we were referred to did some extra gene testing on my daughters and said neither one would develop the disease. My concern is both my girls, ages 9 and 6, display all of my previous symptoms before I was diagnosed. My 6 year old is almost 7 has not lost a baby tooth yet. She is so small I carry her around like a 3 year old. My 9 year old, who always complains of stomach pain, has started to get a few gray hairs.
My question is.... Shouldn't a biopsy be done for them as well for a proper diagnosis? The specialist is telling me no, but my gut tells me there is something there.
Answer:
Because I do not know exactly which blood tests were ordered and I cannot review the tests myself, it is difficult for me to say what to do in this situation. We know that genetic predisposition plays a key role in the development of celiac disease. One of two HLA (human leukocyte antigen) genes, HLA-DQ2 or HLA-DQ8, is necessary to develop celiac disease.  Patients who are negative for both of these genes are very unlikely to suffer from celiac disease. If your daughters are negative for both HLA-DQ2 and HLA-DQ8, I would recommend talking to your pediatrician and your pediatric gastroenterologist about other possible diagnoses.
Sincerely,
Center for Celiac Disease at The Children's Hospital of Philadelphia

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