Coeliac Disease

In this episode of PodMD, experienced gastroenterologist and educator A/Prof Mark Ward will be discussing the topic of Coeliac Disease, including what the disease is, the risks, treatment and more.

  • Transcript
    Please note this is a machine generated transcription and may contain some errors.
    *As always, all in this PODMD podcast is intended for health professionals and the comments are of a general nature. Information given is not intended as specific medical advice pertaining to any given patient. If you have a clinical issue with one of your patients please seek appropriate advice from a colleague with expertise in the area.

    Today I’d like to welcome to the PodMd studio Associate Professor Mark Ward.

    Mark Ward is an experienced gastroenterologist and educator based in Melbourne. Associate Professor Ward completed his physician and gastroenterology training at the Alfred Hospital and Eastern Health before completing an advanced clinical fellowship where he acquired expertise in Inflammatory Bowel Disease (IBD), gastroscopy, colonoscopy and bowel cancer screening.

    Today, we’ll be discussing the topic of Coeliac Disease.

    *We do hope you enjoy this podcast but please remember that the advice here is of a general nature and is not intended as specific advice about a given patient. The views and opinions expressed in this podcast are those of the doctor, not PodMD.
    If you do have a patient on whom you require specific advice, then please seek advice from a colleague with appropriate expertise in that area.

    Mark, thanks for talking with us on Pod MD today.

    Mark: Thanks very much for having me

    Question 1
    The topic of today’s discussion is Coeliac disease, can you describe for our listeners what coeliac disease is?

    Mark: Coeliac Disease, it’s very common. It’s a common autoimmune condition and it’s whereby ingestion of gluten in the diet leads to an immune mediated damage or insult to the small intestine in the small bowel. We know that it occurs amongst genetically predisposed patients over 99% will carry the HLA type DQ2 or DQA genes and this sort of genetic basis underpins some of the other conditions that you see with Coeliac Disease, like increased prevalence of type one diabetes, autoimmune thyroid disease, and some skin conditions like atopic dermatitis. So how do I think about how coeliacs disease, the pathogenesis and how it operates? Well, in a patient with Coeliac Disease, when they ingest gluten, when there’s gluten in the diet, you get a local immune mediated, inflammatory response or reaction. You get increased chronic inflammatory cells within the small bowel, mostly lymphocytes, and they cause inflammation and atrophy or destruction of the finger like projections, the Villi that are important for absorption.

    And this then leads on to some of the symptoms and problems with Coeliac Disease. Coeliacs is actually quite common. In Australia it affects about one, possibly as high as 2% of the population. And with that genetic basis, it clusters in families. So for example, about one in 11, patients, siblings, will have Coeliac Disease. If someone has Coeliac Disease about one in 13 of their offspring will. And that one in 33 parents of patients will have Coeliac Disease if their son or daughter does. So it clusters within families. And it’s just worth touching that there are some less common disease associations, which do have this autoimmune flavor, things like IGA deficiency, autoimmune myocarditis and idiopathic dilated cardiomyopathy, primary biliary cirrhosis, and some other gastrointestinal diseases that run in clusters like reflux, a high rates of eosinophilic esophagitis, inflammatory bowel disease and microscopic colitis.

    Question 2
    How would a patient with coeliac disease typically present?

    Mark: There really are variation in the way that it presents. When we were going through med school, the classic coeliac patient would be a child or a baby that has a big tummy and has a failure to thrive and can’t put weight on. But now it’s much more subtle. So we see a lot more pediatric or adult onset coeliac, and the classic symptoms would be diarrhea or a fluctuating bowel habit, problems with absorption of nutrients, weight loss, and then because of that damage to the villi, difficulty or issues with absorbing other micronutrients like B12 and iron. Patients who have problems with calcium and vitamin D malabsorption might then have osteopenia or even osteoporosis, but it’s really worth just keeping in mind that the presentation can be much, much more subtle. A common presentation to a gastroenterologist or detection would be iron deficiency and then a gastroscopy might detect Coeliac Disease, and we’re starting to become more aware of what we call extra intestinal manifestations of Coeliac Disease. So patients often have cognitive deficits, problems with their mood, difficulty concentrating or brain fog, classic skin rashes like dermatitis, herpetiformis, infertility, both with males and females unusual or abnormal liver function tests, there’s even some case reports of functional hyposplenism and predisposition to infection. So with that in mind for the presentation, how do you make the diagnosis? Well really it’s a serology as the first-line investigation. And that can be either antibody testing against Kleidon or it can be auto antibodies such as tissue transglutaminase and deaminated gliadin peptide, they’re the most commonly used sterile serological tests.

    It’s worth just mentioning a little bit about coeliac gene testing. So really the utility of Coeliac gene testing is a negative result, effectively rules out Coeliac Disease, but about 30 to 50% of Australians will carry the susceptibility gene. So a positive test doesn’t add too much. And then in nearly all circumstances, when you have a suspicion of Coeliac Disease, with positive serology on a gluten containing diet, you undergo a gastroscopy and then the gold standard is biopsies from the small intestine to find those changes of Coeliac Disease. I guess there are some certain situations that are just worth touching on, so straight forward if you have positive serology and then you have a positive, small bowel biopsy, you’re dealing with Coeliac Disease, that’s straightforward. Sometimes you can get positive serology and a negative small bowel biopsy. So when do we think of that?

    Well, sometimes the serology is only weakly positive, for example, less than two times the upper limit of normal. And that doesn’t necessarily mean Coeliac Disease. It could also be that the patient has positive serology, but the biopsies were negative cause it’s a Peci distribution and just at biopsy you didn’t take enough or you missed the area that’s involved. And then this is situation of negative serology, but a positive or an abnormal biopsy. So you might have gut symptoms and you’ve had a gastroscopy and there’s really a range of conditions that gastroenterologists think of a long list of things like common variable immunodeficiency, autoimmune problems, gastroenteritis, chronic infections, sometimes , TB, rare malnutrition.

    And I guess one last thing to touch on is this situation of patients who are on a gluten free diet because gluten causes symptoms and they want to know whether they’ve Coeliac Disease, or not. So obviously in that situation, the serology and the biopsies might be normal. So what we try and do is we do gene testing. If that’s negative, we can say you don’t have Coeliac Disease, but as I said, positive 30 to 50% of the time. So then we try and challenge them with gluten equivalent of one slice of bread per day for at least two to three weeks. And if tolerated, push it out to six weeks and then we do the serology and what we perform a gastroscopy.

    Question 3
    What are the risks of the condition?

    Mark: I mean really it’s the impact of Coeliac Disease, is sort of two fold. There’s what symptoms do you have with it? And that’s really quality of life stuff like, abnormal bowel habit, malabsorption, weight loss, but untreated you can have longer-term problems like osteopenia, osteoporosis, iron deficiency with, or without an anaemia and often overlooked to things like reproductive and menstrual issues. So females can have onset menstruation at a later age earlier menopause and obstetric issues like miscarriage, preterm, low birth weight, they’ve all been reported in patients with poorly controlled Coeliac Disease. And it extends to male fertility as well. You can have issues with motility and morphology less, more rare, but quite significant is it does carry an increased risk of lymphoma and GI cancer. And then there’s this other population of patients with Coeliac Disease, which we label as having refractory disease. So these are patients that don’t have a response to a gluten-free diet, or those that have an improvement on a gluten-free diet and remain on the gluten-free diet, but then they seem to get a relapse despite adherence. This is a serious situation, where you can have an immunological expansion of pre-malignant cells within the small bowel, and this can be associated with an enteropathy associated T-cell lymphoma.

    Question 4
    So Mark, can you tell us what the treatment options are?

    Mark: Fortunately, the main treatment option is a gluten-free diet. So that’s the sort of the gold standard, that’s the cornerstone of managing Coeliac Disease. It’s worth noting that if you do go into a gluten-free diet, you might be avoiding roughage and other things and predispose to constipation. So having more fiber in the diets important for management, and then it’s about monitoring. So there are different guidelines to indicate when we should monitor. My practice I checked the serology at 6 and 12 months and then 12 monthly after that. And again, the US guidelines are quite aggressive as to when you should repeat the gastroscopy in the small bowel biopsy. I think with normal serology is it’s fine to wait for two or three years. And then we need to think about where gluten could be sneaking in. So there are medications that include gluten and then the role extends beyond the gastroenterologists really to the GP. So monitoring micronutrients, looking for the development of other autoimmune diseases that are associated with the condition, screening for bone loss. In patients that are struggling with a gluten-free diet, we use a dietician. I always recommend that they join the coeliac society of Australia.

    Question 5
    Have there been any developments in treatment in the last years or are there any in trials or development now?

    Mark: Given it’s such a prevalent condition and affects so many people, there’s a lot of interest in trying to develop new treatment, but it’s to date being fairly disappointing. We really only have the gluten-free diet as being the only effective way. I think over the next five to 15 years, you’ll hear about some sort of novel therapeutic strategies, for example, ways of detoxifying the gluten that we eat in the diet, so that it isn’t recognized by the small intestine or using other medications like peptidase or sequestrants to sort of mop up or bind dietary gluten products. There are other approaches that try to block epithelium permeability, or some of the enzyme activity of transglutaminase too. And then there’s been a lot of interest in trying to raise different methods to restore the immune tolerance to gluten, but today has been fairly disappointing, including a vaccine.

    Question 6
    Are there any warning signs a GP or their patient can look out for?

    Mark: I think the main thing is somebody that’s had a well controlled Coeliac Disease with good adherence to a gluten-free diet who then develops symptoms or positive serology, suggesting that they might be developing refractory disease. So that would be time to refer back to the gastroenterologist. I think patients that also have positive serology should be referred back. And those are the ones who are just struggling with their symptoms or micronutrient deficiencies.

    Question 7
    What role does the GP play in the treatment of the condition?

    Mark: Really important role, because I usually just see my coeliac patients once a year for monitoring, and it’s really the GP who’s going to continue to monitor the patient as their family physician throughout the year. And they really are the frontline to see the development of symptoms, warning red flag symptoms. It’s important for them to keep an eye on micro nutrient problems. Pneumococcal vaccination is important and to manage co-existing irritable bowel syndrome.

    Concluding Question
    Thank you for your time here today in the PodMD studio. To sum up for us, could you please identify the three key take home messages from today’s podcast on a Coeliasc Disease?

    1. The first Thing is this is a common disease, but hope I’ve illustrated that there’s a wide variety of presentations and it can be subtle. So just remember to consider the diagnosis in patients with abdominal symptoms and micronutrient deficiencies.
    2. Dot point 2 is make the diagnosis with serology and it needs to be on a gluten containing diet and the limitations of coeliac gene testing,
    3. And then three, really monitoring the patient and watching for complications.

    Thanks for your time and the insights you’ve provided.

    Mark: Thank you

*As always, all in this PODMD podcast is intended for health professionals and the comments are of a general nature. Information given is not intended as specific medical advice pertaining to any given patient. If you have a clinical issue with one of your patients please seek appropriate advice from a colleague with expertise in the area.