Celiac Disease in children

Celiac disease in children

The following chapter was written by Dr Lev Dorfman, an excellent pediatrician who is sub-specialising in pediatric gastroenterology in the United States. I did a little bit of editing so that it fits the general vibes of this website.
I will also share here that my son was diagnosed (2020) with Celiac, mostly due to our high level of suspicion and awareness of the disease.

I therefore advise you all to read the following article, try to understand it and consider screening your kids for the condition.

So, what is Celiac disease?

Celiac is an autoimmune disease, i.e a state in which the body attacks its own self.
The disease develops as a result of exposure to gluten and it is due to a combination of hereditary and environmental factors.
Gluten is a protein that is found in wheat, barley and rye. The disease can only develop in children who have previously been exposed to gluten. In those who still haven’t been exposed to gluten-containing food, the disease cannot develop.

What does Celiac disease result in?

In children with Celiac, exposure to food that contains gluten leads to an immune reaction that damages the mucous membranes of the small intestines. This damage leads to a disturbance in the absorption of certain components of food that are important to our body. This lack of absorption results in nutritional deficiencies that causes even more damage to our bodies.

What are the signs of Celiac disease?

In the past, children used to present with a large, distended abdomen and sign of malabsorption. In recent years, however, there has been growing awareness of the disease and we now rarely see children coming in to the clinic with such a presentation.
The condition is usually diagnosed at an early stage and the earlier presentation of the disease can vary. Some of these children have no symptoms at all, others will present with non-specific abdominal pain, diarrhea or nutritional deficiencies (mostly anemia due to iron deficiency, read more here), bone density impairment, growth delay (drop in weight or height percentiles), vomiting and more.
Due to the growing awareness in the past few years, more and more pediatricians run blood tests intended to investigate for Celiac, and the number of children diagnosed with Celiac disease has therefore been rising as well. Many of these children are asymptomatic or are at a very early stage of the disease.

How common is Celiac disease in the general population?

The estimated prevalence of celiac disease is around 1 percent in the general population. That means that there are probably several students with Celiac in every school out there. Some kids will have already been diagnosed, while others still have not. Often, they say that those who have been already diagnosed represent only the ‘tip of the iceberg’, meaning there are so many people out there with Celiac that haven’t been diagnosed yet.
In girls or women, Celiac is twice or three times as common.

Who is most at risk for developing Celiac?

There are different groups of people in whom celiac is more common. Sometimes, Celiac is so common in these groups of people that they are advised to undergo screening tests for early diagnosis of condition. These groups who are at risk include:
First-degree relatives of Celiac Disease patients
Children that have IgA deficiency
Children that suffer from other autoimmune disease such as thyroid gland diseases, juvenile diabetes, arthritis, etc.
– Children that have genetic diseases such as Down Syndrome, Turner Syndrome and William’s.

Who should get tested for Celiac?

Because of the high prevalence of the disease and the large variety of the symptoms it could present with, it is important to consider Celiac in the following situations (in addition to those mentioned above):
1. Children who have gastrointestinal symptoms such as chronic or intermittent diarrhea, chronic constipation that does not respond to therapy (read more here on constipation in children), abdominal pain or distention, nausea or recurrent vomiting.
2. Children who have symptoms that do not involve the gastrointestinal tract including loss of weight, failure to thrive, growth delay, delayed puberty, chronic weakness, irritability, joint pain, chronic anemia, bone density impairment, recurrent fractures, recurrent aphthous ulcers in the oral cavity, typical rash, an abnormality of the external layer of the tooth and elevated liver enzymes.
Obviously, having one of the above symptoms does not necessarily mean the child has Celiac but rather only raises the suspicion. Given the high prevalence of the condition and the simple initial workup (blood tests), testing should always be considered following consultation with the pediatrician.

Celiac and inheritance

Just by noting the prevalence of the condition in first degree family members one can learn quite a lot about the genetic component behind the disease. It is well known that people with certain genes are at greater risk of developing Celiac.
Having said that, it is important to emphasize that the genetic component represents only a portion of the factors needed for the disease to develop. Therefore, most people with a first-degree family relative with Celiac do not have Celiac.

How is Celiac disease diagnosed?

Lets start by mentioning who can diagnose the disease – that would be a gastroenterologist. However, many times the suspicion and workup will start at the general pediatrician’s office, with the help of blood tests that check for the level of the typical anti-TTG and anti-EMA antibodies.
Anti-TTG and anti-EMA antibodies are ‘ IgA’ antibodies. It is very important to make sure that the child undergoing these tests does not suffer from a general deficiency in IgA antibodies. A child being tested for anti-TTG and anti-EMA who is deficient in IgA antibodies at his baseline could bring us to misleading results. It is interesting that in people with Celiac, the prevalence of IgA-deficiency is actually quite high.

That is the reason why anytime a physician orders Celiac antibody tests, he/she will also order tests to check for the level of IgA antibodies in the blood. At some of the labs these IgA tests are carried out by default on ordering Celiac Disease antibody tests. In children with IgA deficiency, the initial diagnosis is based on anti-DGP antibodies. The presence of the disease may be suspected depending on the type and quantity of antibodies present in the blood.

Does a gastroscopy and biopsy have to be performed for the diagnosis of Celiac?

Up until several years ago, the diagnosis of the disease was always based on a gastroscopy. A gastroscopy is a short examination during which a flexible tube is inserted into the mouth of the child and passed through the esophagus, stomach and duodenum (first part of the small intestine). During the examination, samples (biopsies) are taken from the small intestines. In a patient with Celiac, these biopsies have a characteristic appearance – the villi of the small intestines (small structures that project from the membrane), are flattened.
It is important to make sure that gluten is being consumed by the child at the time at which the blood tests are taken and up until the time at which the gastroscopy is performed. Avoiding gluten will distort the results of the bloodwork and biopsies and will prevent us from reaching the right diagnosis.
Several year ago, the European society for pediatric gastroenterology published clinical guidelines that allowed for the diagnosis of Celiac disease based on clinical symptoms, a certain level of antibodies in the blood and genetic testing. For the first time, it was possible to diagnose Celiac disease without carrying out a gastroscopy.
In 2020 new guidelines were published that allowed for the diagnosis to be made, not only without the completion of a gastroscopy but also without genetic testing and in completely asymptomatic children, in certain cases.
It is important to remember that this diagnosis is permanent, and it will accompany the child throughout his entire life. Therefore, one should not take it lightly. It is important to reach the diagnosis in the most definite way possible, so that the certainty of the diagnosis is not questioned at a later time in life. A consult with a pediatric gastroenterologist will allow for a full assessment of the child’s test results and a joint decision about the optimal way of reaching a diagnosis.

Can we diagnose Celiac at any age?

Yes, Celiac can be diagnosed at all ages. It is, however, quite rare that a parent is diagnosed with Celiac Disease after his/her child was diagnosed. It is important to note that a negative result in children who are at risk of developing the disease (such as a sibling of a child with Celiac) is pleasing but does not fully rule out the possibility of developing Celiac in the future. These children need to undergo checkups annually. According to the most recent publications, these children need to be examined once a year until the age of 12.
Another important finding is that the tests for Celiac are less reliable in infants under the age of one and a half years. In children in this age group, if the blood results are negative for Celiac and the clinical suspicion persists, they should be repeated later on.

What is potential Celiac disease?

This is a condition where despite the presence of typical Celiac Disease antibodies in the person’s blood, the biopsy results are normal or do not suggest the diagnosis. These children have the potential to develop Celiac disease in the future and require the follow up of a gastroenterologist, with continued gluten exposure. During the follow up, if the antibody levels continue to be positive or continue to rise, a second gastroscopy is performed in order to re-evaluate the presence of disease.

What genetic tests are done for Celiac disease?

Celiac disease is seen in people with a specific HLA gene. This gene is found in approximately 40 percent of the population. Therefore, a positive test (i.e the presence of the gene in a patient), does not necessarily mean much, except for the fact that this child could potentially develop Celiac.
In cases where genetic testing does not reveal the presence of the HLA gene – there is higher probability of ruling out the disease.
So, genetic testing helps us rule out disease but does not help much with reaching a diagnosis, and it is therefore not in much use and not used very often in children.

What is the treatment for Celiac disease?

The good news is that there is a way to treat it and it is called: a gluten-free diet!
Even though this isn’t a drug, it is completely therapeutic. It is important to keep a strictly gluten-free diet in the best way possibly and to teach the child to check for gluten in anything they eat.
Luckily for us, we live in an era where there are so many gluten-free products, and the market is growing all the time. The large variety of options allows for a diverse and satisfying diet.
It is important to insist on eating products that are clearly labelled as gluten-free, that is, those that contain less than 20 PPM of gluten.
What is PPM? PPM stands for Parts Per Million. When a label says there is less than 20 PPM in a product it means the manufacturer has committed to producing less than 20 milligrams of gluten in 1 kilogram of his product.
What about the products that are labelled “may contain gluten” you ask? These are products that could certainly contain gluten and it is best to avoid them. Throughout the medical evaluation of Celiac patients, nutritional deficiencies are also assessed – supplements are recommended, as needed.

It is important to emphasize that in people with Celiac disease that is not well controlled, there is a slightly higher chance of developing lymphoma cancer.
In addition, those with Celiac also have a higher chance of developing other autoimmune diseases.
These are some of the reasons why it is important to raise awareness of the disease, to reach a diagnosis early-on and to maintain a gluten-free diet in children with the disease.
Maintaining a gluten-free diet reverses the damage that has been done to the intestine and the increased risk of lymphoma cancer is also eliminated.

In the future we can all new drugs for Celiac disease, read more here and let us dream togheter.

Is the damage caused by Celiac disease reversible?

Yes. Maintaining a gluten-free diet allows for the recovery and healing of the small intestine tissues. This means the damage is actually reversible. It does, indeed, require a significant lifestyle change but this change allows for full recovery of the tissue. Any exposure to gluten, even if it is a very short one that does not result in the elevation of antibodies in the blood, could have significant health implications. Therefore, it is very important to insist on a strictly gluten-free diet.

Can Celiac disease be transient?

Sometimes, children and their families get the feeling that after having maintained a strictly gluten-free diet, and once their symptoms have fully resolved and there are no remaining signs of Celiac in their blood tests, that the disease has resolved.
It is important to realize that Celiac Disease is a permanent condition, one that accompanies the patient for his entire life. Every time they are exposed to gluten, the autoimmune process that causes damage to the intestines as mentioned above, will restart. It takes time to fix that damage. Remember, Celiac disease that is not well controlled results in damage also outside the gastrointestinal tract, including impairment in bone density, growth delay, fertility impairment, etc.
That is why it is so important to maintain a gluten-free diet.

Do Celiac patients need to be followed up after the diagnosis has been made?

Absolutely. Patients with Celiac Disease need to be followed by a gastroenterologist. They normally tend to visit their gastroenterologist once every six months or year. During these visits, they are assessed for their levels of antibodies in the blood and a nutritional assessment is also carried out.

In summary, the threshold for suspicion of Celiac Disease should remain low when treating children.
In children that maintain a proper diet, the prognosis is excellent and it allows for a good and happy life.
In the past few years, parents as well as pediatricians are more of aware of the disease, and this brings us to diagnosis at an earlier stge. Nonetheless, it is clear that there are still many individuals, both children and adults, that suffer from Celiac and have not yet been diagnosed.
I urge you all to take your children to the pediatrician and find out whether your child has Celiac. Consult with your pediatrician and decide together whether it is worth running some tests to check for the presence of the disease (in my personal opinion – it is always worth it).


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