Positive blood tests, negative biopsy and IBD?

[Carolina]

Hello, 

I would appreciate some guidance on my daughter's testing results so that I may be armed with the best questions to ask at her follow-up appointment.

She is 10yo (tall 75% and very, very thin), consistent growth curve since birth. Had constipation issues as a toddler, but nothing overly noteworthy. Treated with miralax. She occasionally complains of joint pain in her knees and ankles, and I feel her coloring has changed over the years. She looks very pale and just not as healthy.

Last spring she had 2-3 weeks of diarrhea with some blood, tested for infection at the time and there was none. Another episode over the summer, shorter duration and unknown if there was blood. Currently again having a flare-up with blood and got a quick appointment with a Pediatric GI.

4 out of 6 tests came back positive for celiac. TTG IGA over 100 (0-3) with weak positives on TTG IGG and IGG as well as a positive in endomysial antibody. Given the blood in stools he scheduled endoscopy and colonoscopy. 

After the procedures he said he doesn't "think" it is celiac and believe it was a false positive from IBD. The intestines were very inflamed and suggested it was Ulcerative Colitis or Chron's and would wait on biopsy to say more, learn about diets, etc.

I would not wish this on anyone, but given no "good" options I was hoping for celiac disease and found some peace that a diet could help over drugs. 

I am devouring everything I can read before our appointment this week. If anyone has any insight as to why her blood tests would seem so clear, yet biopsy appear clear, and then colonoscopy show IBD inflammation please share. Thank you!

[kareng]

You haven't heard the biopsy result she yet?  It's quite possible the doctor missed the sections of the small intestine - did they do an endoscopy or just a colonoscopy?  

 

I am assuming, from what you wrote, that she is  extremely anemic? Maybe deficient in B12 and D also?  Those are also indicators of Celiac.

[Carolina]

18 minutes ago, kareng said:

You haven't heard the biopsy result she yet?  It's quite possible the doctor missed the sections of the small intestine - did they do an endoscopy or just a colonoscopy?  

 

I am assuming, from what you wrote, that she is  extremely anemic? Maybe deficient in B12 and D also?  Those are also indicators of Celiac.

Correct, I have not heard the official biopsy results of endoscopy and colonoscopy. He said based on what he saw on endo he doesn't suspect celiac and based on what he saw on colonoscopy it is clear it is IBD in some form. I have read I should ask how many biopsies were taken to confirm there was enough taken to not be missed.

I thought anemia too, but CBC came back normal. WBC were slightly elevated and Sed Rate Westergren was 16 (0-10). Everything else normal.

 

[ravenwoodglass]

With 4 of 6 celiac panel tests positive she has celiac. Since she has had the endo she can start the diet. You don't have to wait on the results. Damage from celiac can be patchy and easily missed so even if the biopsies do come back negative that doesn't mean she isn't celiac.

[kareng]

Wth a positive blood test of >100, it has to be celiac.  It is possible there is something else too.  But don't let him talk his way out of a Celiac diagnosis.

[Cara in Boston]

The biopsy can only confirm Celiac, it can't rule it out.  A negative biopsy does not mean she does not have Celiac . . . it only means damage was not found.  Maybe there is no measurable damage (yet).  Maybe it was missed.  It does not mean no Celiac.

Your daughter has a positive blood test and Celiac symptoms.  The next "test" is to see if her symptoms resolve with the gluten free diet.  

Do not let an uninformed doctor jeopardize her future. There are also implications for the rest of your family.  All first degree relatives need to be tested, even if they are asymptomatic.

Since she has already had an endoscopy, you can start the diet right away.  Be strict, and be careful of cross-contamination.  You may find that other "symptoms" that you never noticed (sleep habits, energy level, concentration, etc) also improve.

Best of luck to you.

Cara

 

 

[Carolina]

Thank you all for taking the time to respond. I really don't see how it could be a false positive and I plan to proceed with cutting out gluten regardless. I have great medical where I live and the Doctor is highly regarded. I know he specializes in Chron's/Colitis. I plan to get a second opinion. I am really hoping he doesn't come back with Chron's, I have seen no signs of growth issues so hanging on to that for hope. I'm also puzzled why he would rule it out, when it doesn't have to be an either/or from what I am understanding.

[cyclinglady]

My GI told me that visually I looked great, but my biopsies (reviewed by a pathologist) showed moderate to severe patches.   Plus, I only had one positive on the celiac panel and it was not a high result!).   Damaged areas can be missed!  

She can have more than one AI issue going on.  Even if celiac disease is firmly ruled out at this time (I would seek a second opinion to be sure), it can develop at any age.  Honestly, how can it be ruled out so abruptly when her panel is so strong?  Too strong to suggest that other AI issues are causing those test result numbers.  

My niece went through 4 GIs before finding out she had Crohn’s at 19, but we made sure celiac disease was firmly ruled out.  She will need to be screened for celiac disease every few years because of family history and her current Crohn’s diagnosis.  I can tell you that she is doing fine and is in college now.  

Trial the diet for six months.  You will know for sure!  

[Carolina]

I just got an email that some test results were updated. I am devastated. Tough to understand it all, but this was the comments at the end...

 

COMMENT: The upper gastrointestinal tract involvement (duodenal) and sparing of
the hepatic flexure/proximal transverse colon segments are suggestive of Crohn's
disease. Clinical and endoscopic correlation is suggested.
 

[Jmg]

1 hour ago, Carolina said:

I just got an email that some test results were updated. I am devastated. Tough to understand it all, but this was the comments at the end...

 

COMMENT: The upper gastrointestinal tract involvement (duodenal) and sparing of
the hepatic flexure/proximal transverse colon segments are suggestive of Crohn's
disease. Clinical and endoscopic correlation is suggested.
 

You've done everything right so far, stay the course. Early diagnosis of crohns appears to be massively important in improving outcomes. If I were you I'd do as you'd planned and trial the gluten-free diet, although let your doctor know beforehand in case there's any impact on further crohns diagnosis. 

Very best of luck to you both. 

[Carolina]

44 minutes ago, Jmg said:

You've done everything right so far, stay the course. Early diagnosis of crohns appears to be massively important in improving outcomes. If I were you I'd do as you'd planned and trial the gluten-free diet, although let your doctor know beforehand in case there's any impact on further crohns diagnosis. 

Very best of luck to you both. 

Thank you. Despite what he said initially, I do not plan to ignore the Celiac results. I am working on a 2nd opinion that I want for that reason and to also get another opinion on Crohn's treatment plan. Her procedures were Friday, she had D on Saturday whether it be from the flare-up or procedure and has been fine since. I know others require liquid diets for months after diagnosis to get flare-up under control. Given (huge knock on wood) she is on the better side of that equation, I want to best understand how hard it needs to or should be hit with meds at this point. I hate all the drugs for Crohn's, I will do what is necessary, but not without fully understanding all options while exploring more natural options like diet. I know many are diagnosed young with failure to grow or gain weight, also clinging to hope that even though she is very thin, she has always been consistent on her growth curve...tall and thin.

[cyclinglady]

I am so sorry!  My heart goes out to both you and your daughter.  I completely support your idea of another GI consult and to rule out celiac disease.  She can have both.  Without treating celiac disease, it can continue to possibly cause Crohn’s flare ups.  Find out on that report how many biopsies were taken in the small intestine and the location.  They should have taken more than four!    Start keeping a food and symptom diary to help determine food intolerances.  For my niece,  it seems that stressful events trigger her Crohn’s.  Oddly, it is usually happy events like traveling with family or friends.  

In the meantime keep advocating for her.  Make sure she gets a 504 plan in place so that school will give her unlimited access to bathroom breaks.  Learn about treatment options.  Get her on a good healthy diet to help fight inflammation (meats, fish, nuts, fruit, veggies, dairy, etc.) and avoid processed foods.  Have her vitamin and mineral checked by the doctor.  This is a critical time for all kids her age to get proper nutrition for optimal growth.

It is hard dealing with an autoimmune issue. I have a few.  I am hoping that my 16 year old daughter will dodge the AI bullet.  AI runs like crazy on BOTH sides.  But already she has Raynaud’s (cold, blue hands and feet).  She has learned to wear wool socks year round (dang, it is going to hit 100 degrees today!).  She is adapting.  

Finally, talk.  Grieve.  Take some time for yourself to digest all of this.  We are here for you!  

[Carolina]

3 minutes ago, cyclinglady said:

I am so sorry!  My heart goes out to both you and your daughter.  I completely support your idea of another GI consult and to rule out celiac disease.  She can have both.  Without treating celiac disease, it can continue to possibly cause Crohn’s flare ups.  Find out on that report how many biopsies were taken in the small intestine and the location.  They should have taken more than four!    Start keeping a food and symptom diary to help determine food intolerances.  For my niece,  it seems that stressful events trigger her Crohn’s.  Oddly, it is usually happy events like traveling with family or friends.  

In the meantime keep advocating for her.  Make sure she gets a 504 plan in place so that school will give her unlimited access to bathroom breaks.  Learn about treatment options.  Get her on a good healthy diet to help fight inflammation (meats, fish, nuts, fruit, veggies, dairy, etc.) and avoid processed foods.  Have her vitamin and mineral checked by the doctor.  This is a critical time for all kids her age to get proper nutrition for optimal growth.

It is hard dealing with an autoimmune issue. I have a few.  I am hoping that my 16 year old daughter will dodge the AI bullet.  AI runs like crazy on BOTH sides.  But already she has Raynaud’s (cold, blue hands and feet).  She has learned to wear wool socks year round (dang, it is going to hit 100 degrees today!).  She is adapting.  

Finally, talk.  Grieve.  Take some time for yourself to digest all of this.  We are here for you!  

Thank you, allow me to comfort you now. I have had AI issues since college. Reynaud's and debilitating joint pains along with chronic fatigue. I was always in a gray area, blood work trending towards Mixed Connective Tissue Disease. Signs of Lupus but not everything needed to diagnose with certainty. They initially tried to say Fibromyalgia which is the we don't know what's wrong with you catch-all IMO. 100% stress was affecting as I was married and wanted to start a family by this time. Pregnancy put all my issues into remission. My blood work still comes out with lots of abnormalities but until something new presents itself I choose not to think about it. I get joint flare-ups very, very rarely now.

[cyclinglady]

Yep, we just need to soldier on.  That is what I try to teach my daughter.  When I want to vent, I find that my celiac.com friends not only can relate, but listen.  They give good advice too.  

I confess that I go out of my way to help her (like do her chores..)  I know my parents took a tougher approach with their kids and we turned out fine.  I just worry that another AI issue will develop.  High school is tough and demanding.  Worse when you have a kid who is a high achiever.  We are trying to teach her to be a slacker!  ?

Consider getting testing for celiac disease.  All first-degree relatives should get tested even if symptom free.  It might help your daughter’s diagnosis in case damaged areas were missed.  

Hang in there!  

 

[Carolina]

25 minutes ago, cyclinglady said:

Yep, we just need to soldier on.  That is what I try to teach my daughter.  When I want to vent, I find that my celiac.com friends not only can relate, but listen.  They give good advice too.  

I confess that I go out of my way to help her (like do her chores..)  I know my parents took a tougher approach with their kids and we turned out fine.  I just worry that another AI issue will develop.  High school is tough and demanding.  Worse when you have a kid who is a high achiever.  We are trying to teach her to be a slacker!  ?

Consider getting testing for celiac disease.  All first-degree relatives should get tested even if symptom free.  It might help your daughter’s diagnosis in case damaged areas were missed.  

Hang in there!  

 

Haha, I’m on it. Had myself tested last week and all were negative. Understood, we are a family of Type A overachievers and none of us are good at relaxing. Work in progress....

[Carolina]

I wanted to update since we had her appointment this morning. I am forever grateful to a local friend that has UC and spent a long time looking at her case and armed me with incredible information. I shocked him at every turn and it felt so good! We started the appointment with it's most likely Crohn's and ended with 75/25 to 60/40 it is UC and Celiac. I am clinging to that hope perhaps too much. He was supportive of the gluten-free diet change and my desire not to do steroids and start as "small" as possible. He does still want her on a 5-ASA drug. Our next step is also to get an MRI which will give us a better picture. He was impressed I knew about the promethius assay test and impressed that I knew UC usually starts in rectum and works its way up BUT there are some exceptions though rare that will not have disease all the way and will have an area of healthy tissue. Bottom line he leans toward Crohn's because (1) there are 2 spots in colon with no active colitis and (2) a part of the small intestine has something "mild" going on. I am praying we are going to be one of those exceptions!

[cyclinglady]

They found my niece’s Crohn’s with a pill camera — way beyond the reach of both scopes.  But my niece was 19.  Not sure if they would consider a pill camera in a younger child.  

Happy that your doctor is willing to work through all this!  

[Carolina]

On 10/17/2017 at 2:53 PM, cyclinglady said:

On 10/17/2017 at 2:53 PM, cyclinglady said:

They found my niece’s Crohn’s with a pill camera — way beyond the reach of both scopes.  But my niece was 19.  Not sure if they would consider a pill camera in a younger child.  

Happy that your doctor is willing to work through all this!  

 

I thought I would come back and update one more time. We got a 2nd opinion from another Pediatric GI that is well-regarded. I also preferred a female because I think that will make my daughter feel more comfortable especially in the years ahead. The new Doctor 100% agrees with me on the Celiac diagnosis and said with numbers that high there is no way it is a false positive from the IBD. We also got the MRE results back and they were good...best news ever! So, now we know the IBD is only affecting the colon. Although I want to be able to label it, we have to wait and see. She is not a typical Ulcerative Colitis case because the large intestine is "patchy" with diseased and healthy tissue which leans more towards Crohn’s. For now the treatment is the same, nutritional shakes to calm inflammation, gluten-free diet and Lialda for the colon inflammation. We will check in December to see if the drug is working. She has gained 3lbs in the last week and is officially on the bottom rung of "healthy" weight on the BMI calculator at 5%.  I can tell some Doctors just don't like to put IBD/Celiac together, but it does exist. One other thought for those that read in the diagnosing phase, things looked ‘unremarklable’  after the endo per his words, but the biopsy did in fact show diffuse flattened villi, celiac damage. 

 

[Jmg]

2 hours ago, Carolina said:

I thought I would come back and update one more time.

I'm glad you did, its good to hear from you and your experiences will help others in the future. 

Best of luck to you and your daughter. 

[squirmingitch]

Thanks for the update! 

It's thrilling to hear she's gained 3 lbs already!!!!! HOORAY!

I'm so happy you found a good Ped GI for her. That can make such a huge difference.