Celiac disease in children

So, what is celiac disease?

Celiac disease belongs to the group of autoimmune diseases, 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. Without exposure 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 harms the mucous membranes of the small intestines. This injury leads to a disturbance in the absorption of certain components of food that are important to our body and as a result there can be damage secondary to the different nutritional deficiencies.

What are the signs and symptoms of celiac disease in children?

In the past, the typical presentation of celiac disease in children was a large, distended abdomen. In recent years, however, awareness of the disease has risen such that nowadays we rarely see children coming into the clinic with this presentation. The condition is usually diagnosed at an earlier stage, with variable presentations and sometimes without any symptoms or findings at all.
As mentioned, some of these children have no symptoms at all, others will present with non-specific abdominal pain, diarrhea, or constipation (we have an excellent chapter on this website about constipation, read in this link), nutritional deficiencies (mostly anemia due to iron deficiency, you can read about that here), growth delay (drop in weight or height percentiles), bone density impairment, vomiting, bold spots and more.
Because awareness of the disease has been rising in recent years, many pediatricians have been performing more and more blood tests for celiac, and the number of children diagnosed with celiac disease at an earlier stage, with milder symptoms or prior to the onset of any symptoms, is growing.
Celiac disease is common among first-degree family members (parents and siblings), and many people with celiac disease find out after they learn about a family member’s random positive test. I see that quite often. A child is found positive for celiac because of certain signs or symptoms and then one of their siblings, or their parents is also found positive, in the absence of any symptoms.
This just emphasizes how important it is to consider the disease and to screen the general population, and not just populations that are at high risk, as you will see is done below.

How common is celiac disease in the general population?

The estimated prevalence of celiac disease is around 1% in the general population. That means, that there are probably several students with celiac in every school out there. Some kids have already been diagnosed, while others have not been diagnosed yet. 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.
Celiac disease is more common in women.

Who is at high risk of developing celiac disease?

There are different groups of people in whom celiac is more common. Celiac is so common in these groups of people that screening for the disease is advised. The groups who are at high risk include:
– First-degree relatives of celiac disease patients
– Children that have IgA deficiency
– Children that have other autoimmune diseases 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, 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, iron deficiency anemia, bone density impairment, recurrent fractures, recurrent aphthous ulcers in the oral cavity (find out more in the link here), specific rashes (chronic urticaria), an abnormality of the external layer of the tooth (enamel defects), and liver enzyme abnormalities.
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 a pediatrician.
Additionally, we have recently summarized a study carried out in Italy about screening all children for celiac, regardless of whether or not they have symptoms. Find out more about what this study revealed here.

Celiac and inheritance

Celiac develops in people with a genetic tendency for the disease (people who carry the immune system genes, the DQ2 and DQ8 HLA types). This tendency is not sufficient to produce disease and there is a need for additional environmental factors. Evidently, the genetic tendency is seen in 30-40% of the general population, but only 1% will develop Celiac. As such it is clear that most family members of a person with celiac, will not have the disease.

How is celiac disease diagnosed?

Let’s start by mentioning that the disease is diagnosed by pediatric gastroenterologists. 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 therefore very important to make sure that the child undergoing these tests does not have a general deficiency in IgA antibodies. A child being tested for anti-TTG and anti-EMA who is deficient in IgA antibodies at their 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, they 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 when ordering celiac disease antibody tests.
In children with IgA deficiency, the initial diagnosis is based on anti-DGP antibodies.
The type and quantity of antibodies present in the blood will determine whether celiac disease is suspected.
But we must emphasize, without going into the details of the different types of tests – the disease can be initially tested for with the help of a simple blood test. Or in other words, it is very simple to screen children (or adults) for celiac, it is simply one test tube and one blood test.

Does a gastroscopy and biopsy have to be performed to diagnose 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 correct 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 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 their 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. As soon as a gluten-free diet is started, it is difficult and almost impossible to go back and make the diagnosis. A consult with a pediatric gastroenterologist will allow for a review of the child’s test results and a joint decision about the optimal way of determining the diagnosis accordingly.

Can we diagnose celiac at any age?

Yes, celiac can be diagnosed at all ages. It is not rare to have a parent diagnosed with celiac disease following diagnosis in one of their children. 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, it seems like these children should 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). 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.

So, should celiac be tested for in the blood more than once?

Certainly. When there is clinical suspicion, the blood test should be repeated as a single negative test at a young age does not rule out the possibility.

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 to re-evaluate the possibility of disease.

What are the genetic tests for celiac disease?

As mentioned above, celiac disease is seen in people with specific types of the HLA gene. These genes are found in approximately 30-40% of the general population. Therefore, a positive test result (i.e the presence of the gene in a patient) does not necessarily mean much, except for the possibility that the child could potentially develop celiac.
When genetic testing does not reveal the presence of the HLA gene – there is higher probability of ruling out the disease.
What I’m trying to say is that genetic tests help us rule out disease but do not help much with the diagnosis and should therefore not be used for diagnosis.
Genetic tests are not done frequently 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 very 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 allow 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 are PPMs? 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 the product.
What about the products that are labelled “may contain gluten”? These are products that could certainly contain gluten and it is best to avoid them.
Many people ask about oatmeal because people who have celiac disease tend to be sensitive to this cereal as well. Therefore, people with celiac disease have to avoid oatmeal in the beginning as well, and can eat oatmeal produced in a gluten-free environment once their antibodies have gone down and their symptoms (if they had any) have resolved.
Throughout the medical evaluation of celiac patients, nutritional deficiencies are also assessed and 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 intestines and the increased risk of lymphoma cancer is also eliminated.

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 change in lifestyle 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.
Unfortunately, this is not true.
It is important to realize that celiac disease is a permanent condition, one that accompanies the patient for their 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, fertility, 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 usually need to visit their gastroenterologist once every six months or once a year. During these visits, they are assessed for their levels of antibodies in the blood and a nutritional assessment is also carried out.

Are there any medications that people with celiac disease need to avoid?

People with celiac disease do not need to avoid any medications, but this isn’t a weird question. This is a topic that has come up because there are some medications that contain different ingredients such as wheat starch, and similar ingredients, which sometimes concerns parents of children with celiac disease.
Nonetheless, none of the medications out there contain a significant amount of gluten or enough to cause a response in celiac patients. All the medications marketed in the western world are safe for celiac patients.

In summary, the index of suspicion for celiac disease should remain high when treating children. The more pediatricians implement this and choose to screen children for celiac, the more celiac patients will be discovered. In children that maintain a proper diet, the prognosis is excellent and it allows for a full and happy life. That’s for sure.
In the past few years, parents as well as pediatricians have become more aware of the disease, and this brings us to a diagnosis at an earlier stage. 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 suggest you all try to find out whether your child has ever been tested for celiac. If they haven’t, see your pediatrician and make a joint decision about whether it is worth running some tests to check for the presence of the disease (in my personal opinion – it is always worth it!).