MUDr. Pavel Frühauf CSc. is one of the head physicians at the Clinic of the Department of Paediatrics and Adolescent Medicine of the First Faculty of Medicine (1.LF UK) and General Teaching Hospital in Prague. He specializes in children’s gastroenterology and nutrition and in ultrasonography. At the 1 st LF UK he works as a teacher at the clinic of the Department of Peadiatrics and Adolescent Medicine and at the Institute of Social medicine and Public Health. He is also the chairperson of the board of trustees of Š vejcar’s Endowment Fund for Children – Karlov. He says that coeliac disease is the second most frequent chronical disease in children and youth, just after asthma. He proves it with numbers: In America the given number is one person out of one hundred, our numbers are a little bit lower – one in two hundred.
What are the symptoms of coeliac disease?
As far as children are concerned, it is said that coeliac disease manifests itself in such a way that only approximately fifty percent of patients have gastrointestinal symptoms and out of these a significant part does not present the typical symptoms, which have been associated with coeliac disease, i.e. diarrhoea, abdominal pain, and others, on the contrary, some patients suffer from constipation. The other half of the patients are so called extraintestinal, which means that they have other symptoms than those related to intestine and alimentary tract. These are dermatic manifestations – Duhring’s disease, enamel hypoplasia, bones disorder in the sense of osteoporosis, small build, delayed puberty, anaemia, which does not react to usual therapy and some other even less probable, yet possible matters such as liver problems, higher figures in liver tests, unclear joint inflammations, epilepsy. There is also a group of patients who are so to speak clinically silent, meaning that they have no symptoms at all, however, when the disease is discovered, it turns out that there were some problems and their main source were from family relatives.
Which relatives are concerned?
If you discover that a patient suffers from coeliac disease, you should offer antibodies blood tests to all the relatives of first and second degree. This means brothers and sisters, cousins, parents, grandparents, uncles and aunts. These have approximately ten percent chance to have coeliac disease, although they are asymptomatic.
Another source, where you need to look for coeliac disease are so called associated diseases, which appear more often in connection with coeliac disease than in the normal population. Diabetes of the first degree, thyroditis, Down’s syndrome, Turner disease and other genetic syndromes. A real problem is that another problem associated with coeliac disease is low level of immunoglobulin A (IGA) in blood, as the patient, even though he or she is coeliac, does not have positive findings in blood so further examinations are needed.
This is known, so you have to look further into it. And even if the IGA is low, you have to examine the intestinal mucosa, so that coeliac disease can be excluded or confirmed.
What is the current diagnostic procedure?
The current diagnostic procedure is the following: a patient comes to see you and from what s/he says you should think of the possibility that it might be coeliac disease. Or a gastroentrologist, who is qualified for that. The most important thing is to think of the possibility. Then you take the patient’s blood and if the patient has positive antibodies, you send him/her to a gastroentrologist who will finish the work. And since antibodies do not constitute a 100 per cent certainty, the patient also undergoes a biopsy. These two examinations will find out for sure whether the patient is coeliac or not. However, if a patient has the antibodies, we still think that sooner or later s/he will develop the disease so s/he should watch out for it.
And if there are two coeliacs in the family, the doctor must consider that the patient might already have coeliac disease. The basic histological criteria are what the pathologist sees there and then there are other things relating to immunochemistry and immunohistochemistry which can tell us that the patient has coeliac disease but not in the fully developed form. Still, the patient must go on a diet. The only treatment for coeliac disease is a gluten-free diet. Lifelong and irrevocable.
Should I understand that there are different forms of coeliac disease, some more and some less serious?
No. Either you have coeliac disease or not. And you follow a gluten-free diet. The manifestations of the disease can, however, differ in their seriousness. They can sometimes even be hidden. In spite of that, the patient always has damaged intestinal mucosa, which means that it cannot absorb things as well as it should. The question then is how much damage has been done and how big symptoms the patient has. A typical symptom is diarrhoea, lost of weight and the fact that the patient doesn’t thrive, which soon brings him/her to the doctor. There are also more subtle manifestations, e.g. anaemia, with which a person learns to live with. Or the patient takes iron but it does not help his/her anaemia. For a child, however, it means that in the end his/her school performance is lower and that s/he feels tired, but it does not seem so bad. The person does not feel ill. However, unless s/he doesn’t treat the mucosa, which can only be done through a gluten-free diet, his/her health condition will not improve. For instance, I know a family, where there are three girls ill, but since they are almost two metres tall and they are slim, their genetic potential has not been fulfilled. We also examined their mother and found out that she was a coeliac, too. Later she told me, that nothing was really wrong with her, but now, when she is on the diet, she feels better. Although you cannot really feel tired if you look after three girls (smile).
So it is not possible just to reduce the intake of gluten?
No, it is not. Coeliac disease equals gluten-free diet, no matter what your symptoms are. Even asymptomatic relatives, in which we find damaged mucosa, should go on a gluten-free diet. The main reason for it is, that damaged mucosa does not allow full absorption and this leads to autoimmune diseases, mainly in women. Women suffer from autoimmune diseases twice as often as men. Generally speaking it is osteoporosis, which is more frequent in women after climacterium. Another thing is that if a gluten-free diet is not followed, the patients have higher occurrence of malignant tumours of alimentary canal. The third problem is that there may be associated diseases and it is thought that they do not manifest themselves, provided a gluten-free diet is followed.
When I speak about autoimmune diseases, I should not forget that they intertwine. For instance, we get a patient with thyroditis whose endocrinologist thought of coeliac disease and the disease is confirmed. When an endocrinologist finds out that a child has diabetes, s/he should also make blood tests to see whether the child is coeliac. And then it is a real fight, when a child has to follow both diabetic and coeliac diets.
Can coeliac disease be determined out of blood tests?
Yes, but not for 100 percent. There is a high probability but the reliability – so called sensitivity and specificity – in the new antibodies is approximately 95 per cent, sometimes even more in research laboratories. But then, when you put the tester into a routine operation, you have to fit into some cost. The reliability is high, higher than with antigliadin tests, which should not be used, but still, we cannot be 100 per cent sure. You can simply have a person with an immunity defect who has no antibodies and is still coeliac. Or it overlaps. So we actually do biopsy in hope that the result will fall into the five per cent and the person is not coeliac. It allows us to exclude the disease and the patient does not have to follow the difficult gluten-free diet
Do you have the feeling that the number of coeliacs is increasing?
I don’t think it is. Coeliac diesase has often been asymptomatic. What is increasing is the diagnostic possibilities and knowledge. The discovery of antibodies has moved us forward so now it is possible to find out whether somebody is coeliac or not. Nonetheless, the numbers are high. For example in our surgery, every week, one child is diagnosed with coeliac disease.
MUDr. Pavel Frühauf CSc. is one of the head physicians at the Clinic of the Department of Paediatrics and Adolescent Medicine of the First Faculty of Medicine (1.LF UK) and General Teaching Hospital in Prague. He specializes in children’s gastroenterology and nutrition and in ultrasonography. At the 1 st LF UK he works as a teacher at the clinic of the Department of Peadiatrics and Adolescent Medicine and at the Institute of Social medicine and Public Health. He is also the chairperson of the board of trustees of Š vejcar’s Endowment Fund for Children – Karlov. He says that coeliac disease is the second most frequent chronical disease in children and youth, just after asthma. He proves it with numbers: In America the given number is one person out of one hundred, our numbers are a little bit lower – one in two hundred.
What are the symptoms of coeliac disease?As far as children are concerned, it is said that coeliac disease manifests itself in such a way that only approximately fifty percent of patients have gastrointestinal symptoms and out of these a significant part does not present the typical symptoms, which have been associated with coeliac disease, i.e. diarrhoea, abdominal pain, and others, on the contrary, some patients suffer from constipation. The other half of the patients are so called extraintestinal, which means that they have other symptoms than those related to intestine and alimentary tract. These are dermatic manifestations – Duhring’s disease, enamel hypoplasia, bones disorder in the sense of osteoporosis, small build, delayed puberty, anaemia, which does not react to usual therapy and some other even less probable, yet possible matters such as liver problems, higher figures in liver tests, unclear joint inflammations, epilepsy. There is also a group of patients who are so to speak clinically silent, meaning that they have no symptoms at all, however, when the disease is discovered, it turns out that there were some problems and their main source were from family relatives.
Which relatives are concerned?
If you discover that a patient suffers from coeliac disease, you should offer antibodies blood tests to all the relatives of first and second degree. This means brothers and sisters, cousins, parents, grandparents, uncles and aunts. These have approximately ten percent chance to have coeliac disease, although they are asymptomatic.
Another source, where you need to look for coeliac disease are so called associated diseases, which appear more often in connection with coeliac disease than in the normal population. Diabetes of the first degree, thyroditis, Down’s syndrome, Turner disease and other genetic syndromes. A real problem is that another problem associated with coeliac disease is low level of immunoglobulin A (IGA) in blood, as the patient, even though he or she is coeliac, does not have positive findings in blood so further examinations are needed.
This is known, so you have to look further into it. And even if the IGA is low, you have to examine the intestinal mucosa, so that coeliac disease can be excluded or confirmed.
What is the current diagnostic procedure?
The current diagnostic procedure is the following: a patient comes to see you and from what s/he says you should think of the possibility that it might be coeliac disease. Or a gastroentrologist, who is qualified for that. The most important thing is to think of the possibility. Then you take the patient’s blood and if the patient has positive antibodies, you send him/her to a gastroentrologist who will finish the work. And since antibodies do not constitute a 100 per cent certainty, the patient also undergoes a biopsy. These two examinations will find out for sure whether the patient is coeliac or not. However, if a patient has the antibodies, we still think that sooner or later s/he will develop the disease so s/he should watch out for it.
And if there are two coeliacs in the family, the doctor must consider that the patient might already have coeliac disease. The basic histological criteria are what the pathologist sees there and then there are other things relating to immunochemistry and immunohistochemistry which can tell us that the patient has coeliac disease but not in the fully developed form. Still, the patient must go on a diet. The only treatment for coeliac disease is a gluten-free diet. Lifelong and irrevocable.
Should I understand that there are different forms of coeliac disease, some more and some less serious?
No. Either you have coeliac disease or not. And you follow a gluten-free diet. The manifestations of the disease can, however, differ in their seriousness. They can sometimes even be hidden. In spite of that, the patient always has damaged intestinal mucosa, which means that it cannot absorb things as well as it should. The question then is how much damage has been done and how big symptoms the patient has. A typical symptom is diarrhoea, lost of weight and the fact that the patient doesn’t thrive, which soon brings him/her to the doctor. There are also more subtle manifestations, e.g. anaemia, with which a person learns to live with. Or the patient takes iron but it does not help his/her anaemia. For a child, however, it means that in the end his/her school performance is lower and that s/he feels tired, but it does not seem so bad. The person does not feel ill. However, unless s/he doesn’t treat the mucosa, which can only be done through a gluten-free diet, his/her health condition will not improve. For instance, I know a family, where there are three girls ill, but since they are almost two metres tall and they are slim, their genetic potential has not been fulfilled. We also examined their mother and found out that she was a coeliac, too. Later she told me, that nothing was really wrong with her, but now, when she is on the diet, she feels better. Although you cannot really feel tired if you look after three girls (smile).
So it is not possible just to reduce the intake of gluten?
No, it is not. Coeliac disease equals gluten-free diet, no matter what your symptoms are. Even asymptomatic relatives, in which we find damaged mucosa, should go on a gluten-free diet. The main reason for it is, that damaged mucosa does not allow full absorption and this leads to autoimmune diseases, mainly in women. Women suffer from autoimmune diseases twice as often as men. Generally speaking it is osteoporosis, which is more frequent in women after climacterium. Another thing is that if a gluten-free diet is not followed, the patients have higher occurrence of malignant tumours of alimentary canal. The third problem is that there may be associated diseases and it is thought that they do not manifest themselves, provided a gluten-free diet is followed.
When I speak about autoimmune diseases, I should not forget that they intertwine. For instance, we get a patient with thyroditis whose endocrinologist thought of coeliac disease and the disease is confirmed. When an endocrinologist finds out that a child has diabetes, s/he should also make blood tests to see whether the child is coeliac. And then it is a real fight, when a child has to follow both diabetic and coeliac diets.
Can coeliac disease be determined out of blood tests?
Yes, but not for 100 percent. There is a high probability but the reliability – so called sensitivity and specificity – in the new antibodies is approximately 95 per cent, sometimes even more in research laboratories. But then, when you put the tester into a routine operation, you have to fit into some cost. The reliability is high, higher than with antigliadin tests, which should not be used, but still, we cannot be 100 per cent sure. You can simply have a person with an immunity defect who has no antibodies and is still coeliac. Or it overlaps. So we actually do biopsy in hope that the result will fall into the five per cent and the person is not coeliac. It allows us to exclude the disease and the patient does not have to follow the difficult gluten-free diet
Do you have the feeling that the number of coeliacs is increasing?
I don’t think it is. Coeliac diesase has often been asymptomatic. What is increasing is the diagnostic possibilities and knowledge. The discovery of antibodies has moved us forward so now it is possible to find out whether somebody is coeliac or not. Nonetheless, the numbers are high. For example in our surgery, every week, one child is diagnosed with coeliac disease.