Help! Confusing Results That Nobody Understands

[Chickies11]

Hi! I am new here. A year ago I took my then 11 year old son to his doctor for a problem that he had for years but was getting worse. He complained of stomach pain often after eating and was constantly in the bathroom pooping. He was also small for his size and skinny but with a bloated stomach. I had no clue what celiac was at the time but his doctor decided to run the tests to be safe. His results came back and his Dr. Was confused. Everything seemed normal except EMA was positive abnormal. The test said it was repeated twice. He admitted he had no clue what this meant and sent me to a gastro. While waiting for that appointment I decided to ask my other son's allergy/asthma Dr because he is very good and I trusted him. He took one look and said he had Celiac. But I should go to gastro. He also tested him for food allergies and he has none.

Gastro sees him and schedules endoscopy and Colonoscopy (which I now feel colonoscopy was unnecessary) Results come back and she says no damage, just lactose intolerant. She sends us on our way. Meanwhile my son is in agony and constant bloating and stomach issues. He also vomits when he is stressed.

In June we request my asthma Dr to repeat the celiac blood work and this time his TTG Igg is 5 ( a 6 would be weak positive) and once again EMA positive abnormal with repeat analysis. He has a check up in August and weight is 15% and height 10% and he has not yet entered puberty. Now it's December and he has actually dropped a few pounds and still lives in the bathroom and I ask his PEDIATRICIAN to 're run the tests. (Even avoiding lactose)They call and say everything is normal except EMA positive abnormal. AGAIN. Meanwhile I have recently found out that my two aunts and two cousins have celiac. My mom died 8 years ago, had diabetes and was never tested but I now suspect she did as well.

I feel very frustrated and confused. My son is miserable and I dont want his growth stunted and from everything I have read, EMA positive is 100% specific to Celiac. I've read countless book and searched everything on the internet and can't find any case that is similar. Please help!

Btw I did think of just having him go gluten free but besides wanting the diagnose for school my husband will not allow such a huge change without it being doctor ordered.

[Cara in Boston]

Doctors run a panel of tests because everyone is different and immune systems behave differently.  You only need one positive test.  My son was negative on all the IgA tests and positive on only the IgG tests.  I was the opposite.  Positive only on the IgA tests.  We both have celiac. He had a positive biopsy, mine was negative.

 

A negative biopsy only means that damage was not found.  It can only confirm celiac, not rule it out.  The damage could have been missed. There might not be enough damage yet, etc. etc.  Many reasons why the biopsy could be negative.  I would even question your GI . . . doesn't know much about celiac disease if he/she is looking for it with a colonoscopy . . . 

 

Our Celiac specialist considers the diet to be the "final test" . . . try it (be strict) for three months and keep a diary of how he feels and any symptoms.  If his health improves, you have your answer.  I was diagnosed "officially" based on my positive blood test and my positive response to the diet.  My son was "officially" diagnosed based on his positive blood test and his positive biopsy (he had no classic symptoms).  

 

Your son has celiac in his family, has uncomfortable symptoms consistent with celiac, and has had a positive blood test.  Trust your instincts.  See if your husband would support a "trial" diet.  Don't wait too long.  

 

When I was first diagnosed and went gluten free, the diet seemed hard.  Within a week or two, I was feeling SO MUCH BETTER that I didn't care about the things I missed.  Nothing is worth feeling miserable - especially food.  It is just food.

 

Maybe find another doctor.  See if your region has a celiac support group and contact them.  They can recommend doctors in your area who are up to date . . . it took us two doctors before we found one who knew more than I did after reading just one book.

[nvsmom]

I agree with Cara. The EMA IgA is about 99% specific to celiac disease. If he has symptoms, celiac disease in the family, and a positive EMA IgA, then he has celiac disease. Some doctors want all the stars and planets to align before they give a celiac disease diagnosis but in the meantime they seem to forget that their patients are suffering and celiac disease complications are arising - like lactose intolerance.

The biopsy misses up to 20% of all celiacs, and most of the blood tests can miss up to 1 in 4 celacs. It is not unusual for a celac to have some negative tests. It is a bit unusual to have a positive EMA IgA with a negative tTG IgA, but not unheard of... I have seen t before around here.

The EMA IgA tends to indicate more advanced disease in celacs. The body senses that there is an attack on the intestines so it initiates a major retaliation to wipe out the top layer of the intestine in an attempt to stop whatever was attacking. I have never heard of any other disease causing a positive EMA IgA.... I think that is celiac disease.

I agree that a gluten-free trial s called for, but I would go 6 months instead of 3 because some symptoms can be very slow to improve. Keep a food and symptoms journal to keep track of any changes. Go milk free too so his gut isn't as bothered. After 6 months retest for celiac disease and see if the results have come down. I bet they will. Good luck.

[MitziG]

SMH it is Drs like this that drive me bananas. Stupid GI and he doesn't know what to look for.

#1 Positive EMA = celiac. Period.

#2 Celiac can not be diagnosed with a colonoscopy. He is either dumb or just wanted to bill for an extra test.

#3 Celiac is easy to miss in a biopsy. It is often patchy and many drs only take one or two samples...which I would bet money is the case. Minimum of four should be done, but 8 is better

#4 He diagnosed lactose intolerance because the tips of the villi showed damage. That is where the enzyme necessary to digest lactose is made. Know what causes the tips of the villi to be damaged? Celiac! Argh. Get another GI, pronto.