Professor Nicholas Kennedy:

First, I thank the Vice Chairman and members of the joint committee for allowing us to speak to them today about our hope for the development of a national strategy for coeliac disease in Ireland. To inform members, they have some papers in front of them which I hope will be helpful to guide them through what I am saying. I will start by saying something about coeliac disease - in case members do not know what it is - and to let them know how people with coeliac disease are affected. I will also outline why it can be difficult to find that one has coeliac disease or for doctors to think of the possibility that one has coeliac disease and how it can be quite difficult for people to live with the dietary treatment, which is the mainstay of treatment. I will also give members some idea of what kinds of supports and services people with coeliac disease need to help them through this condition.

First, coeliac disease is an autoimmune condition and it leads to poor absorption in the gut for most people who develop it. In the past, coeliac disease was thought to be a childhood condition and it was thought that people grew out of this childhood condition. As this was believed as recently as the 1970s and 1980s, there still are people in practice in medicine who would have learned this in their medical student days. More recently, it has been recognised that coeliac disease is not something out of which one can grow and once it begins, it lasts for life. Unfortunately in some ways, the condition does not always present in the same way and has quite a lot of different manifestations. The classical presentation about which everybody learns in medical school is somebody who presents with weight loss and diarrhoea and this improves on a gluten-free diet within a few months. The condition initially was not very well understood and over the last 30 or 40 years, a lot of molecular detail now has become understood. This progression in immune research and in understanding the immune system has been very important in understanding diseases like coeliac disease that have an immunological basis. Unlike many of the autoimmune conditions, which include types of arthritis and systemic illnesses such as systemic lupus erythematosus, coeliac disease is distinct from those in that we know mainly what is the instigator. In this condition, the instigator is pieces of protein digested from a large protein present in grains, which roughly is called gluten. In fact, gluten is not a single protein but is a mixture of proteins whenever the flour in which the protein is found is hydrated. From the point of view of food, gluten is important in baked products made from wheat flour because its lends body to the dough and the bread and makes it better textured and more enjoyable to eat.

Unfortunately however, people with coeliac disease have a problem with the gluten present in those foods and it can lead to an autoimmune process that can damage both the lining of the gut and other tissues. More worryingly, it can damage tissues in other organs and this was not really understood 30 or 40 years ago. The severity of the autoimmune damage is quite variable between people and it can even vary throughout life in the individual concerned. It begins usually because somebody gets gastroenteritis and he or she has inherited the genetic possibility of developing autoimmunity. We now know there are more than 40 genes involved. It is not a single gene defect like Down's syndrome or Klinefelter's syndrome or anything like that. It is a quite complicated mixture of mechanisms but the real problem is the inability to switch off abnormal autoimmune sequences in the immune reaction to gluten. While there are lots of autoimmune targets, one that we use for diagnosis is an enzyme in the gut called tissue transglutaminase. As this enzyme also can be found in nerve tissue, in the skin and in various other places, the antibody reactions can occur in lots of different places in the body and not just in the gut.

I have listed some of the manifestations in the summary I have provided for members. They can see that in the gut, the coeliac disease we all recognise reasonably well can cause diverse manifestations, including recurrent mouth ulcers. Most people have digestive complaints that are relatively mild such as a bit of bloating or cramps in the stomach occasionally when they eat too much gluten. Sometimes there is nausea or diarrhoea but not everybody gets all of these and a smaller proportion can develop the skin manifestations, which include rashes and itching. Some people have itching only while others develop the full manifestation with a blistering rash, which is called dermatitis herpetiformis. Some people present to skin specialists and subsequently are found to have coeliac disease. This condition also responds well to a gluten-free diet and may not need any treatment other than a gluten-free diet. More recently again, it has been recognised that tissue transglutaminase 6 antibodies can occur in the brain and in the cerebellum and this can give rise to quite an unpleasant condition called gluten ataxia, in which people develop unsteadiness and a difficulty with balance and in co-ordination of movement. Once again, if this is detected early enough and the gluten is removed from the diet, this can improve after several years. Unfortunately, many people who have been diagnosed with this have been on gluten-containing diets for years and their condition is not reversible. Consequently, the ataxia is permanent although it could have been prevented.

As members can see from this summary, coeliac disease is not just a gut condition, which really is my main message. There also are people who develop poor fertility. Women who have difficulty conceiving, are subsequently found to have coeliac disease and are treated have a better chance of conceiving. Members can see there are nutritional complications because of bad absorption and one of the most common reasons for diagnosis is recurrent anaemia in women. This is often initially thought to be because of menstrual difficulties or poor diet but in fact is due to bad absorption. Osteoporosis is another very common complication, which can be due to poor calcium and vitamin D absorption and is much worse when gluten is in the diet.

Unfortunately, we do not know exactly how many people in Ireland have coeliac disease. If we assume the commonly-held view that 1% of populations in northern Europe have coeliac disease, we would expect approximately 43,000 to 45,000 individuals to have coeliac disease in the Republic of Ireland. However, nowhere near this number of people have been diagnosed and nowhere near this number have joined the Coeliac Society of Ireland as members. We do not have a coeliac disease register unfortunately, although in my clinic that I run in St James's Hospital with my gastroenterology colleagues, it is clear that the pattern is the same as in other places, where one has two to three women per man diagnosed. It also is clear that there is an increased risk in first blood relatives, in which between eight and ten times the normal rate would get coeliac disease. There are twin studies showing there is a high genetic potential. However, we think there are many other conditions associated with coeliac disease because of the genetic reasons and these include type 1 diabetes and Down's syndrome. Moreover, autoimmune thyroid disease is one of the more common associates of coeliac disease. Although these other conditions will not necessarily be improved by a gluten-free diet, it now is thought by immunologists that if people have coeliac disease first and go on treatment with a gluten-free diet, their chance of developing a second autoimmune condition is reduced.

One problem we have is we do not have an adequate diagnosis rate of coeliac disease here. There are many people in the population who have coeliac disease but do not know that and are not being treated and are likely to be suffering the complications if they are not found. I do not know whether any members present have family members or friends who have coeliac disease and I do not know how well they appreciate the life they lead on a gluten-free diet but people who are on a gluten-free diet face many challenges. First, when people are diagnosed it is not a terribly welcome diagnosis in some cases. In other cases, people are relieved that a cause for their long-standing symptoms at last has been found. Moreover, they know what to do about it and it is a relatively straightforward treatment involving diet and not many tablets or recurrent visits. However, it is not easy to remove gluten from one's diet, as it is contained in many staple foods. More worryingly in some ways, it is in many other foods as an additive or a contaminant and it can be very difficult to know which foods will be harmful in a situation.

What happens when people have been diagnosed?

First, they have to come to grips with having coeliac disease and, second, they have to come to grips with what a gluten-free diet entails. They then have to be successful in implementing that, which can take months or years. Some people never manage it.

I will return to the issue of diagnosis. People are often misdiagnosed prior to having their coeliac disease diagnosed. One of the most common misdiagnoses is irritable bowel syndrome. It has been found in some studies that up to 15% of individuals first diagnosed with irritable bowel syndrome, IBS, in fact had coeliac disease. Another confounding possibility is that someone has an allergy to wheat, which is IgE-mediated and not coeliac disease. This tends to occur in people who have other allergies such as asthma, hayfever, etc.. Some people with coeliac disease can also have allergies to grains but that is a different mechanism.

More recently gluten-free dieting has become a fad because it is perceived to be a healthier diet, for some reason. This fad has been driven by the media and celebrities who have turned to a gluten-free diet. Gluten-free foods are now being bought by many people who do not need a gluten-free diet for health reasons but are choosing it as a lifestyle. A study carried out in UCC suggests that for every one person who is buying a gluten-free food for their coeliac disease there are nine who are buying it for other reasons. This is resulting in a huge increase in the sale of gluten-free products and will, perhaps, make available a greater range of gluten-free products, which is to everybody's benefit but it also means that people who are serving gluten-free foods in restaurants and other food service areas are less convinced that people needing a gluten-free diet do so for health reasons rather than lifestyle choice.