Diagnosing Celiac Disease in Children

Canadian Celiac Association (CCA) Board Member Mark Johnson and Operations Manager Sue Newell represented the CCA at the  2015 International Celiac Disease Symposium (ICDS) held in Prague in June 2015. This report represents their learnings on Diagnosing Celiac Disease in Children.  Want to join the Canadian Celiac Association? Visit www.celiac.ca or email [email protected]

Incidence of celiac disease in children 
• In mass screening tests, celiac disease was found in 3% of 12-year-olds in Sweden.
• The southern area of the country has twice as much incidence as the north, leading to questions about environmental and dietary factors.
• Studies in Finland found that celiac prevalence there has gone up from 1% to 2% in recent years – parallel to increase in incidence of Type 1 diabetes
• Incidence rates remain low at 0.5% in Germany
• Incidence in US has gone up from around 0.3% to 1% in last sixty years.
• Across the board, celiac is more common in girls than in boys.

Argument for and against mass screening
Your instant reaction might be “everyone”, and indeed, in the past Italy has gone the route of testing all children for celiac disease. Dr. Anneli Ivarsson of Sweden suggests that all children should be offered celiac screening at the age of three. Such an approach may catch many more sufferers, but the financial considerations are problematic. To effectively and efficiently increase diagnosis rates, at-risk groups must be targeted. Dr. Maria Luisa Mearin of the Netherlands is also optimistic in terms of the efficacy of mass screening, but she notes that, while the Swedish people were willing to pay for mass screening, perhaps other populations would not be. Indeed, there is an immense price tag associated with these mass screenings. Studies are ongoing to determine how widely applied such screenings should be.

Assessing Children for Celiac Disease
A major study conducted at the Celiac Disease Research Center at the University of Chicago found that the most common extra intestinal (non-digestive) symptoms among children were short stature (33%), fatigue (28%), headache (20%) and rash (19%). (In adults, the most common symptoms were iron anemia (48%), fatigue (37%) and headache (24%))

Research from Dr. Govind Makharia of India found that, while the risk for first-degree relatives to be celiac is 8.1%, there are great variations within that group. Sisters and daughters of celiacs have the highest risk at 1 in 6. For sons or brothers, it is 1 in 10, and for parents, it is 1 in 20. Generally speaking, prevalence of celiac disease among first-degree relatives was higher in USA than in Europe, Asia or South America.

When to Test Children for Celiac Disease
According to Dr. Sibylle Koletzko of Germany, “If we only screened symptomatic children, we would only diagnose 34% of children with celiac disease.” Screening of at-risk groups is very important. For example, 12-13% of patients with autoimmune liver disease will also have celiac disease. All should be tested. If children do have the DQ2/DQ8 genes and test negative for celiac, they should still be tested every 5-10 years. Other factors that warrant pre-screening for celiac disease.
• Does a parent or sibling have celiac disease?
• Does the child have unexplained short stature, fatigue, tooth enamel defects, broken nails, poor bone health, headaches, constipation or diarrhea?
• Does he or she have any other autoimmune conditions, especially type 1 diabetes, autoimmune thyroiditis, or Down, Turner, or Williams syndromes?
• Is the child experiencing joint pain when running, or easy fractures when falling down?
If the answer to any of these questions is yes, test them for celiac disease. Even if they seem perfectly healthy, at least get the blood testing done. Many show no overt symptoms, even as they suffer on the inside.

Twin Studies If one monozygotic twin gets celiac, the other twin has over 80% chance of also developing it. The associated prevalence is much lower in non-identical twins – around 30%.

‘Latent’ Celiac Disease
Celiac disease is consifered to be latent if the blood test is positive but the biopsy is negative. Ongoing monitoring of these patients is necessary. Celiac disease can activate at any time, and without the knowledge of the sufferer given the frequent lack of overt symptoms. Many patients find that they knew something was wrong, and just didn’t know what, but then when the celiac was discovered, they realized how much better they felt on the gluten-free diet.

Why do children tend to be diagnosed more quickly than adults?
Romanian researcher Dr. Alina Popp argues that when adults have various symptoms that could be celiac, they delay medical treatment more than they would for their kids. Adults might try to self-treat, and ignore their symptoms. For their kids, they might go to the doctor over and over, increasing the likelihood of diagnosis. If only adults took their health as seriously as they do for their children

From the Scientific Forum
Diagnosis issues were also extensively addressed in the scientific forum. Mass screening is not considered to be cost effective for the general population, but in selected groups, it can be very valuable.

There is no question that it is worthwhile to screen children and siblings of people diagnosed with celiac disease, and perhaps screening for girls should begin earlier than screening for boys. In general, female first degree relatives significantly are more likely than male first degree relatives to have celiac disease. Siblings are more likely than children to also have CD.

Curiously, the likelihood of finding a first degree relative with celiac disease is much greater in the United States (14.9%) than in South America (5.4%) or in Asia and Europe (7%)

Interestingly, adults found by screening generally feel that they do not have symptoms, but after a period of time they generally report their health has improved and anxiety levels have decreased.

One problem that was note with screening is that primary care physicians are not very good at identifying which patients should be screened for celiac disease. In one poster from the U.K. referrals from primary care physicians were no better than results found from mass screening. This indicates a need for more continuing education for family physicians.