Renowned Expert Weighs in on Celiac Disease and Gluten Sensitivity
We held a virtual event on January 18, 2022, with Dr. Stefano Guandalini, Professor Emeritus, Founder and Director Emeritus of the University of Chicago Celiac Disease Center and former Chief of the Section of Pediatric Gastroenterology of the University of Chicago. Dr. Guandalini answered some of the attendee questions we didn’t get to that evening. Here are his responses.
Testing and Diagnosis
Q: How common is it to only have one person in the family with celiac disease? I hear a lot about the genetics involved in celiac disease, but my daughter was diagnosed and is the only one with this autoimmune disease in the whole extended family. What other factors do we think might cause celiac disease?
A: Celiac disease is a “multifactorial” disease; this means there are certainly some genes (the most important ones are well known) that must be present, but there are also environmental factors that must play a role for the disease to occur. Of these, the best known are large amounts of gluten ingested in the first 2 years of life and infections (especially viral ones) in early childhood.
Q: Should asymptomatic adults get genetic testing for celiac disease if they have a mother who has a confirmed diagnosis?
A: It would certainly be useful, because even if the mom must have the genes, the child may not have inherited them. Remember: genetic testing is useful only to rule out celiac disease. If the genes are absent, there is virtually no chance the child can develop celiac disease; but if present, it means the child simply may develop it during his lifetime. Overall, there’s a chance of about 10-20%.
Q: How accurate is the Gluten ID test by Targeted Genomics that uses cheek swabs to identify the risk of celiac disease?
A: Conceptually, the HLA genes related to celiac can surely be identified by testing the DNA from cells exfoliated from the oral mucosa. Whether this specific test mentioned is accurate or not goes beyond my ability to ascertain.
Q: Is a genetic test for celiac disease taken 20 years ago still valid today or should it be repeated?
A: Results of genetic tests do not change with time, as the genes are there from birth to death in each one of us.
Q: My daughter and I don’t have the gene for celiac disease but have been diagnosed with celiac disease. How can that be?
A: There are only two possibilities: wrong genetic test results (errors – though rare — happen even in the best laboratories; furthermore, sometimes even positive tests are mis-read); or wrong diagnosis of celiac disease. Note from GIG: In cases like these, it is helpful to get a second opinion or retake the test if that is possible.
Q: I was told that blood work is not enough to determine celiac disease and that doctors need to go into the body to diagnose. Is that always true?
A: It is almost always true, especially for an adult. In fact, blood tests, even the most accurate ones, may not be predicting celiac disease in 100% of cases (false positives occur in a number of circumstances), hence the need to confirm the diagnosis with an intestinal biopsy, a procedure that is quick, perfectly safe, and well tolerated. That said, in certain circumstances, blood tests are considered enough for a diagnosis, especially in children.
Q: Are there additional HLA types suspected of being related to celiac disease? I have biopsy-proven celiac disease. My children are negative for HLA DQ2 & 8 but cannot tolerate gluten.
A: It was previously thought that up to about 1-2% of celiac patients were negative for both DQ2 and DQ8. Current evidence seems to exclude that additional HLA-Class II haplotypes can be associated with celiac disease. Hence, your children are likely to have other reasons for not tolerating gluten.
After a Celiac Disease Diagnosis
Q: If a person with celiac disease is eating a strictly gluten-free diet, is it possible for that person to also have leaky gut even if adhering to the diet?
A: “Leaky gut” (an increase in intestinal permeability to small molecules) can be part of celiac disease during the florid state (i.e., when eating gluten), and it typically improves with the gluten-free diet. However, there may be other reasons for an increased intestinal permeability, such as small bowel bacterial overgrowth (SIBO), Crohn’s disease, or food allergies. These will, of course, not respond to the gluten-free diet.
Q: If a person with celiac disease follows a strict gluten-free diet, are there any remaining long-term risks to their health or quality of life?
A: Aside from an increased risk of developing other autoimmune conditions (which is largely the result of sharing some genes with celiac disease), a gluten-free diet is the best way to prevent any long-term risks for health, including malignancies.
Q: Is there any benefit to testing for gut bacteria in a celiac disease patient, and if so, which test is the best?
A: No, unless there are persistent symptoms like diarrhea, and in that case your doctor would recommend what kinds of tests (stool culture, parasitological tests, and others) would be indicated.
Q: Once someone has been diagnosed with celiac disease and has been on a gluten-free diet, do you recommend having another endoscopy after two to three years to ensure the intestines have healed?
A: This has been and is a matter of debate, often fueled by strong differences of opinion. In my opinion, once a patient has been on gluten-free diet for a couple of years, symptoms have regressed satisfactorily, and serology has normalized, I see no reasons for a repeat endoscopy, regardless of patient’s age. In the case of children and teenagers, not getting an endoscopy is clearly stated and backed up by international academic societies.
Q: My biopsy showed celiac disease — same with my bloodwork. But I have no GI issues. Just throat swelling. Is that common in celiac disease or non-celiac gluten sensitivity?
A: No, that’s not common at all. What is common is for celiac disease patients to experience no GI issues as so-called “extra-intestinal manifestations” are increasingly common and often are the only symptoms.
Q: What about the skin condition dermatitis herpetiformis (DH)? My doctor told me if I don’t show this skin rash, I am following my gluten free diet well enough. Is that accurate?
A: I would tend to agree. DH is the skin manifestation of celiac disease and must be treated with a gluten-free diet (in addition, when needed, with Dapsone*); but it may also differ from classical celiac disease in that sometimes the intestinal lesion is not so evident and even serology can be normal.
*Dapsone is a prescription medication sometimes prescribed to treat DH. It does not take the place of a gluten-free diet.
Q: I was told I have silent celiac – what is this?
A: Silent celiac disease means you have a positive serology and the typical intestinal damage at biopsy but are lucky enough not to have symptoms. This is not so uncommon, and we have come to uncover this by testing asymptomatic first-degree relatives of celiac patients.
Q: I was diagnosed with celiac disease at 8 years old. I’ve been following a strict gluten-free diet for 19 years now. Anything I need to do or know as I prepare to get pregnant? Any known pregnancy complications if I have celiac disease?
A: No reason to take any additional precautions or follow any advice other than what is recommended for non-celiac pregnant women. There are no additional risks for the baby; but of course, a strict gluten-free diet must be followed throughout pregnancy (and for the rest of life until a cure is found).
Q: How nervous should we be about cross-contact for our children with celiac disease at school, restaurants, friends’ houses, etc.?
A: Being “nervous” is never a good idea; being vigilant is. My advice would be not to keep your children under an isolated, closed bubble; this would interfere with their socialization and development (see what Covid-19 has done); but rather be present and vigilant by – for instance — talking to teachers, school friends, and families, providing lunch from home. Plus, I would expect, in no more than a couple of years, for simple oral preparations to be available to protect from cross-contact (now in advanced stages of experimentation).
Q: What are your thoughts about vitamin D in prevention of celiac disease?
A: In recent years we have learned marvelous things about vitamin D and its role in previously unsuspected areas, mostly in supporting immunity. However, as for preventing celiac disease, I am afraid this is not one of them.
Q: Do you have any recommended books, scientific papers, or other publications to read for the best information about celiac disease?
A: There are plenty of available books and thousands of scientific papers (although not all so reliable) about celiac disease. A starting point could be the University of Chicago’s freely downloadable e-book. Here is the link: Gluten-Free Diet eBook | University of Chicago Celiac Disease Center (cureceliacdisease.org)
Q: What are your thoughts on gluten detection dogs for individuals with severe celiac disease?
A: I cannot answer this. I only have cats! 😊