Celiac disease: how to recognize it in children?

Gastrointestinal disorders, stunted growth, anemia are some of the signs of the possible presence of celiac disease in children.

Considered “rare” until less than a decade ago and promoted to “chronic disease” in 2008, today celiac disease seems to have become an almost universal condition and the gluten-free diet, necessary to keep it under control, a real food fashion, especially among adults.

In reality, the spread of the disease has not changed over time: to increase were, if anything, the diagnostic sensitivity of doctors and attention to symptoms by patients, which led to highlighting many more cases than in the past.

Despite this increased alert and the sometimes somewhat paranoid attitude towards gluten, paradoxically, the “true” celiac disease continues to be under-diagnosed, especially in pediatric age. This exposes children and adolescents unknowingly intolerant, not only to repeated illnesses of various kinds, but also to a real risk of nutritional deficits that can compromise healthy growth and predispose to serious health problems in adulthood.

To protect them it is very important to accurately diagnose celiac disease from the first years of life, bringing to the attention of the pediatrician infants and children who have suspicious symptoms (not only gastroenteric type) and carrying out the necessary tests to confirm the presence of the disease, ie specific antibody tests, followed, if necessary, by endoscopic examination with biopsy of the intestinal mucosa.

What is celiac disease

As almost everyone knows by now, celiac disease is a disease characterized by the presence of intolerance to gluten, the main protein naturally contained in cereals such as wheat, wheat, barley, rye, spelt, kamut and in all foods that derive from their flours (pasta, bread, bakery products, creams, etc.), as well as traceable in many less suspicious food products of industrial origin, such as stock cubes, ready-made sauces and soups, jams, packaged ice creams, creams etc.

Although the exact manner of onset of celiac disease remains to be determined, it is known that to cause the symptoms of the disease is an autoimmune mechanism stimulated by the ingestion of gluten, based on the production of anti-endomysium antibodies (EMA), anti-transglutaminase type 2 (TTG2) (both of the IgA class) and anti-glycandin deaminate (DGP) (belonging to the class of IgG), which attack the portion of the intestine responsible for the absorption of nutrients, i.e. the initial tracts of the small intestine (duodenum and ileum).

In a healthy person the epithelium of this portion of the intestine has a highly folded surface in finger-like formations (intestinal villi), which are intended to increase the efficiency of the passage of proteins, sugars, fats, minerals and vitamins from the alimentary canal to the blood. In those suffering from celiac disease, the abnormal reaction to gluten determines the almost total flattening of the intestinal villi (villi atrophy) and a serious impairment of nutrient absorption, resulting in the development of significant nutritional deficits.

Symptoms of celiac disease in children

Symptoms and signs of celiac disease do not only concern the intestine and can be very different in relation to the age of onset of the disease, which can be very early and occur already in the weaning period (6-24 months), when in addition to milk you begin to offer the newborn cereal-based foods, such as semolina, tapioca, pasta, baby biscuits, etc., or a little later, around 5-7 years.In the first 2 years of life, the main aspects that should lead parents to contact the pediatrician for further diagnostic study include the appearance of frequent vomiting, chronic diarrhea, abdominal bloating, lack of appetite, stunted growth or not in line with age, reduced muscle mass.

All these manifestations should be suspicious especially if they arise in an overall healthy child and in the absence of factors that can notoriously cause gastrointestinal disorders (such as intake of foods at risk during weaning or gastrointestinal infections) and if they tend to persist for more than 1-2 weeks, without showing signs of improvement.

In older children, celiac disease can similarly give rise to chronic and apparently unmotivated diarrhea, but also, on the contrary, to constipation or in any case to an irregular alvo. In addition, the child may experience weight loss not related to changes in dietary habits or the amount of food consumed, poor overall growth and short stature, anemia not corrected by iron by mouth therapy, recurrent aphthous stomatitis, delayed pubertal development and,as well as a whole range of neurological disorders such as headaches. , irritability, nervousness, apathy, learning difficulties, poor coordination of movements, etc.

The relative organic deficiency of calcium and vitamin D that can result from intestinal malabsorption associated with celiac disease may not give rise to obvious symptoms in childhood, but must be promptly countered as it interferes with bone metabolism and, in addition to precluding full skeletal growth, promotes conditions of osteopenia and early osteoporosis in adulthood.

Unlike adults, celiac children generally do not have skin problems, such as urticaria or dermatitis herpetiformis, nor alterations in tooth enamel, which may instead begin to appear after puberty.

Being very generic and non-specific, none of the manifestations of celiac disease in pediatric age, considered individually or in combination with each other, is sufficient to issue a certain diagnosis of disease, which can only be correctly formulated by the pediatrician after a careful examination of the general clinical picture of the child, the analysis of nutritional standards and eating habits of the family and, Last but not least, the execution of laboratory and instrumental tests for the recognition of gluten intolerance.

Before completing this diagnostic process, the elimination of gluten from the diet must be absolutely avoided, both because it is completely inappropriate in the absence of a certain diagnosis of celiac disease and because, by subtracting the immune stimulus at the base of the disease, it would prevent a correct evaluation of the disease through specific tests, thus leading to underestimate the actual impact of gluten ingestion on the body.

The probability that celiac disease is present in children with the symptoms mentioned is greater if risk factors for the development of the disease coexist, such as the presence in the same family of celiac subjects (in particular parents and / or siblings) or with intolerances / allergies of other types and the simultaneous presence of type 1 diabetes, autoimmune thyroiditis or hepatitis, chronic inflammatory diseases (Crohn’s disease, rheumatoid arthritis), Down and Turne r syndrome(disease that affects only women and is due to the absence of an X chromosome), Williams disease (rare genetic disorder characterized by developmental disorders).

Diagnosis of celiac disease

The key tests to confirm the diagnosis of celiac disease are essentially of two types:

– the search for anti-endomysium antibodies (EMA), anti-transglutaminase type 2 (TTG) and anti-gliandin deaminate (DGP), after a simple venous blood sample

– the execution of gastroduodenal endoscopy with biopsy and analysis of small samples of intestinal mucosa.

The first group of exams (generally preliminary to the second, as they are much less invasive and less demanding to perform) is focused on recognition of the cause triggering celiac disease and allows to understand if the child It has an abnormal immune reactivity to gluten.

The second survey is, instead, aimed at analyzing the intestinal effects of intolerance and allows you to observe directly the state of the mucous membrane and intestinal villi, on which the efficiency of nutrient absorption depends.

Endoscopic examination is performed like a normal gastroscopy, with the only difference that the tube is pushed to the beginning of the small intestine and has a device capable of taking fragments of intestinal epithelium for histological analysis, before be withdrawn.

Given that it is a fairly annoying exam both for the children both for adults, as a rule, before performing it is Administered mild sedation that helps tolerate better the entrance of the tube (the one used for children is still very smaller than that used for adults and allows you to make endoscopy without difficulty).

A third analysis that can be exploited to exclude (or indirectly confirm) the diagnosis of celiac disease is genetic type and consists in the evaluation of the relative genotype the HLA (Human Leukocyte Antigen) histocompatibility system which, in Those suffering from celiac disease, are usually characterized by a polymorphism (i.e. a genetic variant) called HLA DQ2 and/or DQ8. In people with modest suspicion of celiac disease it is useful to carry out this Genotype assessment before other diagnostic investigations more Challenging.

Exams	Purpose
Detection of anti-endomysium (EMA), anti-transglutaminase type 2 (TTG) and anti-gliandin deaminate (DGP) antibodies	Detecting an abnormal immune reactivity at gluten
HLA histocompatibility system genotype	Exclude (or indirectly confirm) the diagnosis of celiac disease
Gastroduodenal endoscopy with biopsy	Directly observe the state of the mucous membrane and intestinal villi

On the basis of the evidence of recent years it is believed that the diagnosis of celiac disease in children can be considered certain even without endoscopy and biopsy if they are simultaneously present:

– levels of anti-transglutaminase type 2 (TTG2) 10 times higher than the threshold set by the test

– positive anti-endomysium antibodies (EMA)

– HLA DQ2 and/or DQ8 genotype.

Regardless of the set of investigations that the doctor, in accordance with official guidelines and legal provisions, will deem useful to carry out to arrive at the diagnosis of celiac disease, the latter can only be issued by clinical centers accredited with the National Health Service (SSN) and equipped with adequate experience and specific equipment for the evaluation of celiac disease.

Gluten-free diet

Once the presence of celiac disease has been confirmed, no medication is needed to protect the child from immediate discomfort and medium-long term complications, while it is essential to eliminate gluten from the diet.

Fortunately, for some years now, planning a nutritionally balanced and satisfying gluten-free diet for the palate is quite simple, given the availability on the market of numerous gluten-free products (available and easily identifiable even in supermarkets and in most food stores) and the high public sensitivity to the disease, which has led many restaurants, bars, school canteens etc. to include gluten-free dishes on the menus.

Given that gluten is an important source of protein for the body, its elimination must be compensated with an intake of proteins of different types with comparable nutritional value. To be sure to guarantee the child a healthy and balanced diet, therefore, it is not enough to replace pasta with rice or bread and biscuits with the corresponding gluten-free versions, but it is necessary to prepare a satisfactory structured food plan with the pediatrician or nutritionist.