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    How Early Can You Diagnose Celiac Disease?


    Dr. Rodney Ford M.D.


    • Journal of Gluten Sensitivity Autumn 2016 Issue


    Celiac.com 10/12/2016 - How early can you diagnose celiac disease? This is a most challenging question for everyone: children, parents, pediatricians, gastroenterologists and many other health professionals. This is because, like so many other diseases, celiac disease is a progressive condition that slowly creeps up on you. In addition, there is disagreement about what constitutes a definitive diagnosis of celiac disease. What if the small bowel biopsy result is at odds to the blood test results?


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    It is my opinion that the fundamental diagnostic requirements for celiac disease remain unresolved. This makes early diagnosis problematic!

    Do you keep waiting (whilst suffering from symptoms) for classic gut damage to be visible in a bowel biopsy before adopting a gluten-free diet? Or do you recognize the early onset of celiac disease and go gluten-free prior to this gut damage occurring? Will you be accused of "masking" celiac disease if you are an early gluten-free adopter?

    Currently, most guideline protocols require a definitive diagnosis of celiac disease by demonstrating small bowel tissue damage. This is achieved by performing and upper gastrointestinal endoscopy, taking a tissue biopsy of the mucous lining of the small bowel, and then showing specific tissue damage (villus atrophy) under the microscope: this is the small bowel biopsy procedure.

    However there is significant controversy about the accuracy and necessity of a small bowel biopsy test. We will have a close look at the difficulties and shortcomings of these tests. But first, let's look at these diagnostic problems in relation to Francesca.

    Meet Francesca who is highly at risk of celiac disease
    So how early could we diagnose Francesca's celiac disease? She has just turned 3-years-old. Her mother has celiac disease, diagnosed over 10 years ago. So mum bought Francesca for my opinion because she had started to have some loose bowel motions (runny poops), although sometimes she did have hard bowel motions, which were difficult to pass. She also had a big distended tummy, was getting more cranky, and a bit more tired. Because of mother's celiac disease, Francesca was already consuming a smaller amount of gluten, although she was eating at least one slice of normal wheat gluten bread each day. Her mother's question was: "Has Francesca now developed celiac disease?" This problem confronts me most days in the Clinic.

    How should I investigate and manage her illness?

    • What blood tests should I request?
    • How do I interpret her results?
    • Should I organize a small bowel biopsy?
    • Do we look for early evidence of gluten problems, or do we wait for end stage celiac damage?
    • Should she go on a gluten-free diet now?
    • Should we be concerned about "masking" celiac disease?

    Francesca's blood tests show:

    1. She does carry the HLA gene DQ2: this makes her a likely candidate for developing celiac disease.
    2. The tissue-damage antibodies were normal: the tTG (tissue Trans-Glutaminase) levels were low normal, but the IgG-DGP (Diamidated Gliadin Peptide) levels were borderline (18 units, with a normal range 0-20). Her EMA (Endomesial Antibody) was negative: the borderline DGP is very suspicious and evidence of early celiac disease.
    3. IgG-AGA (Anti-Gliadin-Antibody) level was moderately raised: showing that she has developed an immune response to gluten.
    4. She has not had an endoscopy: with her tissue damage antibodies at low levels, the likelihood of abnormal tissue histology is very low.

    My opinion
    In my opinion, this child is at extreme risk of developing celiac disease. I would like to see her on a strict gluten zero. However, it is now up to her parents to decide whether they will wait until she actually develops gut damage, or do something now to prevent her getting a serious disease.

    What would you do if she were your child? Well her parents decided to place her gluten-free and they saw a big change for the better in just a few weeks. Her bowels become normal, her energy levels improved and she is now a happy girl.

    So what is her diagnosis? I call her early celiac disease. Others would say she has non-celiac gluten-sensitivity. Some would claim that I am unwarranted to suggest a gluten-free diet until she has a positive biopsy and they accuse me of "masking" celiac disease by treating her symptoms.

    Why let Francesca unnecessarily suffer whilst waiting for her to get progressively sicker until we can get a tissue diagnosis?

    Written in the spirit of cooperation and knowledge sharing. You can read many more patient stories in my book "Gluten-Related Disorder: Sick? Tired? Grumpy?" (www.GlutenRelatedDisorder.com).


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    Guest mary k. smith

    Posted

    This is how I feel with my kids. I recognize my pain in them and feel no need to put them through what I went through for so long. Thank you, for making me feel supported in my stance.

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    My youngest son was diagnosed at 19 months old with blood tests and endoscope. He had symptoms much earlier and unfortunately took 6 months to diagnose. My middle child was diagnosed shortly after at the age of 10 with DH and celiac disease. He had symptoms for over 6 years but thought it was anxiety, stress and eczema. Thank goodness my youngest present with failure to thrive. This was over 16 years ago.

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    I love the awareness this article is placing on the fact that we shouldn't suffer waiting for enough damage to get a diagnosis! Both my husband and I were diagnosed with celiac. I have 2 celiac genes and he has one. With this knowledge we made the decision to take out 2 sons gluten free to see if it would help some of their health issues. Within 3 weeks we noticed a drastic difference in both of them. I don't feel the need to get a diagnosis for them or to continue to make them suffer. I hope that we have saved them from some of the damage we both endured.

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    Guest Kristin

    Posted

    I did not like the use of the words "highly" and "extreme" just because her mother has celiac disease. Just because you have the gene does not mean that you will develop the disease.

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    Guest Amy Belcher

    Posted

    I didn't wait for a diagnisis. I have celiac and my husband has gluten intolerance. We were already a gluten-free household, why wait? He won't miss what he never had!

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    She is right. My son had to wait and he was diagnosed at 15. His villi was already destroyed. This was found on a biopsy. Don't wait now he's 30 and gluten free diet but on disability. He only weighs 90 lbs. He has little strength and probably will never know what its like to be married and have children. He doesn't have any friends since he is to weak to go out most of the time. I feel bad for him but the doctors wouldn't listen to us when we told them he was having stomach pain when he ate bread products. Stand your ground and demand help. Also they can develop other problems such as immune problems.

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    First off, three cheers for such a caring doctor! Another consideration might be how long it can take for damaged tissue to heal after celiac disease has taken hold. By the time I received a diagnosis, my intestines were a wreck. Although subsequent blood tests showed that I was doing an excellent job on my gluten-free diet, I still had considerable damage after a full year. I spent two years on a very strict low FODMAP diet before my bowels were finally back to normal, and am still cautious about consuming more than the smallest amount of FODMAP foods. Why put a child through that?

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    My daughter had non-specific but suggestive blood work and not enough intestinal damage to diagnose her as celiac. We were given the option of taking her off gluten (although I believe the doctor would have said it was his recommendation if it wasn't such a gray area) and it is the best move we have made. I think that parents should be encouraged to help make their kids better even without a diagnosis. I think doctors should not be pushed into reaching a diagnosis before suggesting a gluten-free diet. If the diet doesn't help, it definitely won't hurt.

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    Great article. Thank you. I was diagnosed 5 years ago and I have a 8 year old son. So far he seems fine. This article makes me feel more informed when talking to doctors in the future.

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    She is right. My son had to wait and he was diagnosed at 15. His villi was already destroyed. This was found on a biopsy. Don't wait now he's 30 and gluten free diet but on disability. He only weighs 90 lbs. He has little strength and probably will never know what its like to be married and have children. He doesn't have any friends since he is to weak to go out most of the time. I feel bad for him but the doctors wouldn't listen to us when we told them he was having stomach pain when he ate bread products. Stand your ground and demand help. Also they can develop other problems such as immune problems.

    Diane, if your son is still underweight and and ill after 15 years on a gluten-free diet, I'd suspect either he is still getting gluten in his diet (or from some other source) or some other medical problem is at play here. I hope you'll consider looking into this further. Celiac disease should not be a lifetime disability when it's diagnosed, and ordinarily the damaged gut repairs itself (especially in a teenager). At minimum, have another blood test and possibly a biopsy done. See a dietitian as well as consider what non-dietary sources of gluten he may be exposed to.

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    Guest Susan Kephart

    Posted

    Some authorities are saying we should not eat any grains as they are all from the grass family. I am going to try to do it. I was diagnosed by DNA a year ago and have been gluten-free since. I do not find it especially difficult. It is certainly an easy way to discover if your symptoms will go away. For many who have no symptoms, this would be a choice. People should look at their family history. Celiac or gluten sensitivity shows up in mine from this perspective. Good article. Thanks.

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    Guest Martina

    Posted

    Thank you for this great article! I carry DQ2 and was tested positive for IgG-AGA, but gastroscopies were normal and I therefore don't get the benefits that Celiac disease patients are entitled to in my country. My daughter who turned three last Sunday constantly complains of belly pain. She has a "big distended tummy" and is very cranky. Even her kindergarten friends ask why she is always crying. At kindergarten, the children are served pasta (or pizza) and white bread every day. Last week, I asked my daughter's pediatrician (here in Italy) if she could do the Celiac disease screening, and I was told that it is only done if there are clinical signs of Celiac disease. This was after I had told her all of the above. It is so sad that so many children (and adults) have to suffer because of the "sacredness" of wheat. (Several adult friends who are clearly sensitive to gluten have received the diagnosis of "yeast allergy", instead, and continue to be sick and anemic).

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    Sources:
    1. Toft M, Dietrichs E. Aggravated stuttering following subthalamic deep brain stimulation in Parkinson’s disease--two cases. BMC Neurol. 2011 Apr 8;11:44.
    2. Tani T, Sakai Y. Stuttering after right cerebellar infarction: a case study. J Fluency Disord. 2010 Jun;35(2):141-5. Epub 2010 Mar 15.
    3. Lundgren K, Helm-Estabrooks N, Klein R. Stuttering Following Acquired Brain Damage: A Review of the Literature. J Neurolinguistics. 2010 Sep 1;23(5):447-454.
    4. Jäncke L, Hänggi J, Steinmetz H. Morphological brain differences between adult stutterers and non-stutterers. BMC Neurol. 2004 Dec 10;4(1):23.
    5. Kell CA, Neumann K, von Kriegstein K, Posenenske C, von Gudenberg AW, Euler H, Giraud AL. How the brain repairs stuttering. Brain. 2009 Oct;132(Pt 10):2747-60. Epub 2009 Aug 26.
    6. Galantucci S, Tartaglia MC, Wilson SM, Henry ML, Filippi M, Agosta F, Dronkers NF, Henry RG, Ogar JM, Miller BL, Gorno-Tempini ML. White matter damage in primary progressive aphasias: a diffusion tensor tractography study. Brain. 2011 Jun 11.
    7. Lundgren K, Helm-Estabrooks N, Klein R. Stuttering Following Acquired Brain Damage: A Review of the Literature. J Neurolinguistics. 2010 Sep 1;23(5):447-454.
    8. [No authors listed] Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 43-1988. A 52-year-old man with persistent watery diarrhea and aphasia. N Engl J Med. 1988 Oct 27;319(17):1139-48
    9. Molteni N, Bardella MT, Baldassarri AR, Bianchi PA. Celiac disease associated with epilepsy and intracranial calcifications: report of two patients. Am J Gastroenterol. 1988 Sep;83(9):992-4.
    10. http://ezinearticles.com/?Food-Allergy-and-Stuttering-Link&id=1235725 
    11. http://www.craig.copperleife.com/health/stuttering_allergies.htm 
    12. https://www.celiac.com/forums/topic/73362-any-help-is-appreciated/
    13. Ford RP. The gluten syndrome: a neurological disease. Med Hypotheses. 2009 Sep;73(3):438-40. Epub 2009 Apr 29.
    14. Hadjivassiliou M, Gibson A, Davies-Jones GA, Lobo AJ, Stephenson TJ, Milford-Ward A. Does cryptic gluten sensitivity play a part in neurological illness? Lancet. 1996 Feb 10;347(8998):369-71.

    Jefferson Adams
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    Journal of Clinical Pathologyhttp://dx.doi.org/10.1136/jclinpath-2018-205023

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    To get solid data on the issue, the team conducted a cohort study among ARB initiators in 5 US claims databases covering numerous health insurers. They used Cox regression models to estimate hazard ratios (HRs) and 95% confidence intervals (CIs) for enteropathy‐related outcomes, including celiac disease, malabsorption, concomitant diagnoses of diarrhea and weight loss, and non‐infectious enteropathy. In all, they found nearly two million eligible patients. 
    They then assessed those patients and compared the results for olmesartan initiators to initiators of other ARBs after propensity score (PS) matching. They found unadjusted incidence rates of 0.82, 1.41, 1.66 and 29.20 per 1,000 person‐years for celiac disease, malabsorption, concomitant diagnoses of diarrhea and weight loss, and non‐infectious enteropathy respectively. 
    After PS matching comparing olmesartan to other ARBs, hazard ratios were 1.21 (95% CI, 1.05‐1.40), 1.00 (95% CI, 0.88‐1.13), 1.22 (95% CI, 1.10‐1.36) and 1.04 (95% CI, 1.01‐1.07) for each outcome. Patients aged 65 years and older showed greater hazard ratios for celiac disease, as did patients receiving treatment for more than 1 year, and patients receiving higher cumulative olmesartan doses.
    This is the first comprehensive multi‐database study to document a higher rate of enteropathy in olmesartan initiators as compared to initiators of other ARBs, though absolute rates were low for both groups.
    Source:
    Alimentary Pharmacology & Therapeutics