Genetic analysis for celiac disease in vitro. Celiac disease is the current state of the problem. Biopsy and histological analysis for celiac disease

[13-078 ] celiac disease Screening (adults and children over 2 years old)

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Determination of the level of IgA antibodies to tissue transglutaminase and total immunoglobulin A (IgA) in serum, used to screen for celiac disease (celiac disease).

Composition of the study:

• 08-009 Serum total immunoglobulins A (IgA)
• 13-034 Antibodies to tissue transglutaminase, IgA

Research method

Indirect immunofluorescence reaction.

What biomaterial can be used for research?

Venous blood.

How to prepare for research

• It is recommended not to follow a gluten-free diet for 7 days prior to the study.
• Do not smoke for 30 minutes prior to the study.

General information about the study

It should be remembered that the incidence of individual immunoglobulin IgA deficiency is higher among patients with celiac disease. As a result, the result of the study for IgA antibodies may be false-negative in patients with a combination of celiac disease and immunoglobulin IgA deficiency.

What is research used for?

• For screening of celiac disease in risk groups for developing this disease.

When is the study scheduled?

• When examining patients with a burdened hereditary history of celiac disease;
• when examining patients with autoimmune diseases (type 1 diabetes mellitus, Hashimoto's autoimmune thyroiditis, systemic connective tissue diseases) and Down's syndrome.

What do the results mean?

Reference values

1. Serum total immunoglobulins A (IgA)

celiac disease- an immune-dependent disease that affects primarily the gastrointestinal tract. It is characterized by chronic inflammation of the small intestinal mucosa, which can lead to intestinal villus atrophy, malabsorption, and various clinical manifestations in childhood and adults. Intestinal symptoms can include diarrhea, abdominal cramps, pain, and tension. Untreated celiac disease can lead to vitamin and mineral deficiencies, osteoporosis, and other extraintestinal problems.

Some advances have now been made in understanding celiac disease, prevention and treatment of its manifestations through dietary interventions. There is a strong genetic predisposition to celiac disease, the greatest risk is associated with specific genetic markers known as HLA-DQ2 and HLA-DQ8, which are present in those affected by celiac disease. individuals. Dietary proteins present in wheat, barley, and rye, commonly known as glutens Guilty dietary proteins are present in wheat, barley, and rye in the form of a substrate known as gluten. They interact with HLA molecules and activate an abnormal mucosal immune response and induce tissue damage. Even the most affected individuals go into remission after removing the diet from their diet.

Until now, celiac disease has been considered a rare condition in the United States. However, studies that were conducted first in Europe and then in the United States showed that the actual prevalence of celiac disease is much higher. Three million Americans (approximately 1 percent of the US population) are likely to have celiac disease, indicating an underdiagnosis of the condition.

The recent identification of autoantigens involved in the pathogenesis of celiac disease has led to the development of new serological diagnostic tests, but the strategy for applying these new research methods has not yet been determined. These tests have identified many individuals with non-classical gastrointestinal and extraintestinal symptoms.

1. How to diagnose celiac disease?
In order to take the first important step in the diagnosis of celiac disease, it is necessary to pay attention to its many diverse clinical manifestations. There is no test that can confirm or rule out celiac disease in every individual. Just as there is a wide range of clinical manifestations of celiac disease, there are many laboratory and histopathological manifestations of this disease. A combination of clinical and laboratory findings leads to a diagnosis of celiac disease.

All diagnostic tests should be performed while the patient is on a gluten-containing diet. The first step towards the diagnosis of celiac disease is serological tests. They are characterized by high sensitivity and specificity, the best available IgA antihuman tissue transglutaminase (TTG) and IgA endomysial antibody immunofluorescence (EMA) tests. These tests appear to have the same diagnostic accuracy (TTG is a specific protein identified by IgA-EMA). The Antigliadin antibody (AGA) test is no longer recommended due to its low sensitivity and specificity. Serologic tests for celiac disease in children less than 5 years of age are less reliable and may be less appropriate.

Biopsy of the proximal small intestine is indicated in individuals with a positive antibody test, except those with biopsy-proven dermatitis herpetiformis. Endoscopic confirmation without biopsy is not enough to confirm or exclude the diagnosis. Endoscopic findings are not sensitive enough to diagnose celiac disease because changes are focal and multiple biopsies should be performed. Biopsy material should be obtained from the second part of the duodenum and beyond. The pathological report should indicate the degree of crypt hyperplasia and villous atrophy, as well as the number of intraepithelial lymphocytes.

Some degree of villous atrophy is needed to confirm the diagnosis of celiac disease. The presence of intraepithelial lymphocytes in combination with crypt hyperplasia without villus blunting is less specific. Standardization of pathological findings in celiac disease is possible using published criteria (Marsh criteria, 1999). Interaction between the pathologist and the treating physician can help correlate clinical findings with laboratory findings and clinical features. A "second opinion" on biopsy interpretation may be required if biopsy results are inconsistent with serological markers and clinical findings.

With consistent positive serology and biopsy results, a presumptive diagnosis of celiac disease can be made. The final diagnosis is based on the disappearance of symptoms on the agliadin diet. Normalization of histological findings on an agliadin diet is currently not necessary for a definitive diagnosis of celiac disease.
In that case, If there are clinical symptoms and a negative serological test, three scenarios are possible:

• First, the individual has a selective IgA deficiency. If IgA deficiency is identified, IgG-TTG and IgG-EMA tests should be performed.
• Second, the serological test may be "false negative" and should be repeated, or an alternative serological test and/or small bowel biopsy should be performed.
• Third, the patient may not have celiac disease

In the event that the diagnosis of celiac disease is questionable due to the uncertainty of the results, the determination of genetic markers (HLA haplotypes) can divide individuals into high and low risk groups for celiac disease. More than 97 percent of celiac patients have DQ2 and/or DQ8 markers, compared with 40 percent in the general population. Therefore, it is very unlikely that a DQ2 and DQ8 negative individual has celiac disease (very high predictive value).

Great patience must be exercised in making recommendations in cases of positive serology for celiac disease and normal biopsy results. A single best approach can be recommended. Choices include an additional small bowel biopsy, periodic monitoring of serological tests for celiac disease, or a trial of a gluten-free diet.

2. What is the prevalence of celiac disease?
Advances in understanding the multisystem nature of celiac disease and the development of effective serological tests have led to the realization that celiac disease is much more common than is commonly believed.

Population studies in the United States using various combinations of serological tests and biopsy of the small intestine indicate that the prevalence of celiac disease ranges from 0.5 to 1.0 percent (similar rates are observed in Europe). This prevalence includes individuals with and without clinical manifestations. In some ethnic groups, the prevalence may be lower than in Caucasians. In the US, there is very little data on the prevalence of celiac disease among various ethnic groups. This issue requires further research.

Usually the frequency of celiac disease in populations increases. First-degree relatives of individuals with histologically confirmed celiac disease have 4 to 12 percent of cases of villous atrophy on biopsy. Second-degree relatives also have an increased prevalence, which can only be determined serologically. People with type 1 diabetes have biopsy-proven celiac disease in 3 to 8 percent of cases. The prevalence of celiac disease in Down syndrome is between 5 and 12 percent. Celiac disease is also associated with Turner-Williams syndrome, selective IgA deficiency, and autoimmune diseases.

3. What are the manifestations and long-term consequences of celiac disease?
Celiac disease is traditionally defined as a gastrointestinal malabsorptive disorder that manifests itself in early childhood after the introduction of gluten. It is now known that clinical manifestations are highly variable, can occur at any age, and involve many organ systems. Delay in diagnosis is common.

Since celiac disease is a multisystem disorder, its clinical manifestations are very diverse.

Gastrointestinal disorders may include diarrhea, weight loss, growth retardation, vomiting, abdominal pain, flatulence, bloating, anorexia, and constipation. The presence of obesity does not exclude the diagnosis.

It is very common for celiac disease to have extraintestinal manifestations with minimal (or no) intestinal symptoms. A distinctive example is dermatitis herpetiformis, with an intense pruritic eruption on the surfaces of the extensor muscles of the extremities. Iron deficiency anemia is common and may be the only symptom. Other manifestations may be inexplicably short stature, delayed puberty, infertility, repeated miscarriages, osteoporosis, hypovitaminosis, weakness, protein and caloric deficiencies, repeated aphthous stomatitis, increased transaminases, and tooth enamel hypoplasia.

Celiac disease may be associated with autoimmune endocrinological disorders such as thyroiditis. In addition, various neuropsychiatric disorders such as depression, anxiety, peripheral neuropathy, ataxia, epilepsy with or without cerebral calcification, have been reported with migraine headaches in individuals with celiac disease.

There is a classification of subphenotypes of celiac disease. Their definition is useful for the clinic. They include the following:

• Classic celiac disease. The symptoms and consequences of gastrointestinal malabsorption dominate. Diagnosis is based on serological tests, biopsy evidence of villous atrophy, and improvement in symptoms on a gluten-free diet.
• Celiac disease with atypical symptoms. The dominance of extraintestinal symptoms over gastrointestinal symptoms is characteristic. Recognition of atypical features of the course of celiac disease has become possible due to new data on its prevalence. As with classical celiac disease, the diagnosis is made on the basis of serological tests, biopsy evidence of villous atrophy, and improvement in symptoms on a gluten-free diet.
• Silent (asymptomatic) celiac disease is given to individuals who are asymptomatic but have positive serologic tests and villous atrophy on biopsy. These individuals are identified during screening of high-risk groups, and villous atrophy may be found incidentally on endoscopy or biopsy for other reasons.
• Latent celiac disease determined by positive serological tests in the absence of villous atrophy on biopsy. These individuals do not have clinical manifestations, but they may appear with or without histological changes.

Complications of celiac disease

Complications of celiac disease usually appear many years after the onset of the disease and are usually seen in adults. Refractory celiac disease is defined as persistence of symptoms and intestinal inflammation despite a gluten-free diet. It may occur in the context of ulcerative jejunitis and may be an early manifestation of intestinal lymphoma.

Many studies report an increased risk of non-Hodgkin's lymphoma in celiac disease, but there is often no difference between classical enteropathy associated T-cell lymphoma (EATL) and other subtypes. EATL occurs in people diagnosed in childhood. Despite the increased risk, lymphoma remains a very rare complication. Some research suggests that a gluten-free diet reduces the risk of lymphoma.

In addition, the risk of small bowel adenocarcinoma is increased, and there is some evidence that there is an increased risk of carcinoma anywhere in the gastrointestinal tract. The frequency of all causes of death in clinically diagnosed celiac disease is twice as high as in the control population.

4. Who should be tested for celiac disease?
Individuals with gastrointestinal symptoms such as diarrhea, malabsorption, weight loss, and bloating should be screened for celiac disease. Because celiac disease is a multisystem disorder, clinicians should be familiar with the conditions for testing for this disease.

Patients who have persistent transaminase elevations, growth retardation, delayed puberty, iron deficiency anemia, recurrent weight loss, and infertility should be evaluated.

Other conditions that may require investigation include irritable bowel syndrome, persistent aphthous stomatitis, autoimmune diseases, peripheral neuropathy, cerebral ataxia, and enamel hypoplasia. Although osteoporosis is common in patients with celiac disease, there is no evidence of an increased incidence of celiac disease among patients with osteoporosis. There are many other associated systemic symptoms that are not specific to celiac disease, but for which evaluation for this pathology may be recommended.

There are many populations at increased risk for celiac disease. These include individuals with type 1 diabetes, other autoimmune endocrinopathies, first- and second-degree relatives of patients with celiac disease, and persons with Turner's syndrome. Individuals and clinicians should be aware of the increased prevalence of celiac disease in these groups of people.

Symptomatic individuals in these populations should be screened for celiac disease; for example, individuals with type 1 diabetes and unexplained hypoglycemia. Because current evidence does not allow benefit from early detection and treatment of asymptomatic individuals, routine screening cannot be recommended at this time, but should be interviewed if such individuals are identified. Another population at increased risk includes individuals with Down and Williams syndrome. When individuals in these groups cannot explain symptoms, screening is an appropriate option and should be recommended.

Individuals in whom a gluten-free diet does not allow a diagnostic assessment should be given a gluten challenge. For those who refuse to undergo a gluten challenge, the absence of DQ2 and DQ8 may help rule out the diagnosis. Reducing symptoms on a gluten-free diet is not sufficient for a diagnosis of celiac disease. It should be noted that an adequately planned gluten-free diet does not affect nutritional status.

5. What is the management of patients with celiac disease?
Treatment of celiac disease should begin only after verification of the diagnosis, including serology and biopsy.

Treatment for celiac disease involves a lifelong gluten-free diet. A gluten-free diet eliminates wheat, rye and barley. These food grains contain peptides of gluten, which causes celiac disease. Even small amounts of gluten can be harmful. Oats are probably safe for most celiac patients, but their use is limited due to the potential for gluten contamination during food preparation. A strict definition of a gluten-free diet remains controversial due to the lack of an accurate method for determining gluten in foods and the lack of scientific evidence about which foods contain safe amounts of gluten.

Below are the following six key elements in the management of patients with celiac disease:

• Consultation with a skilled dietitian
• Education about the disease
• Lifelong adherence to a gluten-free diet
• Diagnosis and treatment of nutritional deficiencies (Identification and treatment of nutritional deficiencies)
• Access to an advocacy group
• Continuous long-term followup by a multidisciplinary team

Knowledge of the nature of celiac disease, combined with experience in identifying gluten-containing foods, improves the quality of self-treatment. Participation in support groups is also effective in strengthening adherence to a gluten-free diet and can provide emotional and social support. Health care professionals should be aware of and treat vitamin and mineral deficiencies, including deficiencies in iron, calcium, phosphorus, folate, vitamin B12, and fat-soluble vitamins. Individuals with newly diagnosed celiac disease should be screened for osteoporosis as the likelihood of osteoporosis is higher than in the general population. It is very important to have a "team" approach to treatment. In addition to medical treatment and participation in a local support group, consultation with an experienced nutritionist is essential.

After going through the process of initial diagnosis and treatment, patients should practice follow-up visits to the physician and nutritionist to assess symptoms and dietary adequacy, and monitor for complications.

During these visits, healthcare professionals may emphasize the lifelong benefits of adherence to a strict gluten-free diet.

Repeated serological tests may be used to monitor response to therapy (their usefulness has not been proven). These tests may remain positive for a long time (up to 1 year) before normalizing, especially in adults, and may not correlate with improvement in histology.

A persistent increase in serological tests may indicate a lack of adherence to a gluten-free diet or inadvertent ingestion of gluten in the diet. There are currently no screening methods for complications of celiac disease, including lymphoma and adenocarcinoma of the small intestine.

• Undertake a cohort study to study the natural course of untreated celiac disease, especially silent (asymptomatic) celiac disease.
• Determine the response to gluten peptides in DQ2+/DQ8+ individuals without celiac disease. Determine the risk factors for the disease.
• To determine the factors involved in the occurrence of celiac disease in genetically susceptible individuals.
• Develop an animal model(s) of celiac disease to identify pathogenic mechanisms.
• To determine the prevalence of celiac disease in ethnic groups in the United States.
• Develop methods for the prevention of celiac disease. For example, to establish the timing of the introduction of cereals to children in combination with the immune response (B-cells and T-cells) to gluten.
• To determine the relationship between celiac disease and autoimmune and neuropsychiatric diseases.
• Identify non-HLA genetic modifiers that affect the severity of the celiac disease phenotype.
• Develop non-invasive methods for determining and assessing the activity of celiac disease.
• Determine the minimum safe dose of gluten for celiac disease.
• Develop an alternative to the gluten-free diet.
• To analyze the effectiveness and efficiency of serological tests in the general population.
• Conduct a study of screening methods for the diagnosis of adenocarcinoma and lymphoma.
• To analyze the benefits of screening high-risk groups relevant to clinically important outcomes.
• Explore the economic implications of health changes in celiac disease
• To identify and verify serological tests for the diagnosis of celiac disease in children.
• To investigate the quality of life of individuals with celiac disease.

conclusions
Celiac disease is an immunopathological bowel disease with a variety of manifestations. Celiac disease is a common condition affecting 0.5 to 1.0 percent of the general population in the United States, but is often poorly diagnosed.

Currently, there are no specific and sensitive serological tests that are suitable for a wide range of diagnostic studies.

The primary treatment for celiac disease is a lifelong gluten-free diet, which results in remission in most individuals.

The classic manifestations of diarrhea and malabsorption are less frequent and the number of atypical (asymptomatic) forms is increasing. Most patients are followed up by first-line health workers and a wide range of specialists. In this regard, it is urgently necessary to increase the vigilance regarding this disease.

Physicians, licensed dietitians, and other healthcare professionals need to be educated.

• Education of physicians, nutritionists, nurses and the public in relation to celiac disease to be carried out through an initiative of the transnational institutes of health (trans-National Institutes of Health - NIH) led by the national Institute of Diabetes, Digestive and Kidney Diseases (NIDDK)) in association with the Center for Control and Prevention diseases (Centers for Disease Control and Prevention).
• Standardization of serological tests and pathological criteria for diagnosing celiac disease.
• Adopt a standard definition of a gluten-free diet based on objective evidence such as those developed by the American Dietetic Association.
• Development of adequate tests for gluten in food and the establishment of standards for gluten-free products in the United States based on standard food labeling.
• Establishment of federal celiac societies, celiac disease interest groups, individuals with celiac disease and their families, physicians, nutritionists, and other healthcare professionals to advance education, research, and support for celiac patients.

This article describes the causes, clinical manifestations, diagnosis and treatment of a rather unusual, but no less complex and dangerous disease for health - celiac disease, which consists in gluten intolerance.

What is its unusualness and danger?

Quite often, patients suffering from this pathology, in some cases, simply do not notice the signs of its development, while in others they notice the symptoms, but associate them with the progression of diseases they already have (digestive tract, nervous system, endocrinopathy). As a result, untimely diagnosis and lack of treatment of the disease at an early stage often leads to negative effects on the patient's body and health.

False beliefs have become the main reasons for the untimely diagnosis and appointment of adequate treatment for this disease in an adult. In this regard, today, more than 95% of patients suffering from celiac disease do not know the cause of their development of the disease and in most cases consider all the symptoms that appear to be the result of another pathology (mostly the specialist himself is mistaken). Therefore, the causes of the disease are not found out, and the treatment does not work.

For this category of patients, bread and all the other foods listed above can be considered hazardous to health, and only their complete exclusion from the daily menu will help to avoid serious health problems, and following a gluten-free diet for several weeks or months causes a significant improvement in the patient's well-being and even complete cure. And these cases of "miraculous healing" only confirm the main cause of this disease - hereditary intolerance to cereal protein (gluten).

Currently proven:

Celiac disease affects both men and women equally often;

Pathology does not depend on age;

Representatives of any race can get sick with this disease.

Celiac disease - gluten intolerance

Celiac disease is a pathology, the predisposition to which is inherited, so only patients to whom a set of specific genes is transmitted from blood relatives can get sick.

People with a genetic predisposition to develop celiac disease look completely healthy on the outside and changes in their body begin only after eating foods containing gluten. Changes occur in the tissues of the intestine - the immune system is activated and an attack on the cells of the intestine begins, followed by their destruction.

Gluten or gluten is a specific protein found in cereals (rye, wheat, barley), as well as in all products that are made from these cereals.
The pathogenesis of the development of pathological changes in the body of people suffering from celiac disease is based on the negative effect of gliadin (one of the parts of the gluten molecule) with the cells of the intestinal mucosa with the development of an autoimmune reaction, which leads to an inflamed reaction and active cell destruction. The inflammatory response continues as long as the sick person eats foods that contain gluten, and the minimum amount of gluten contained in a few breadcrumbs is enough to activate these changes.

Given the fact that wheat flour and / or other cereal products (flour, cereals, pasta) are currently constantly used: it is certain that most people are in contact with gluten throughout their lives and every day, including patients who do not know who have celiac disease.

As a result of modern research, it has been proven that celiac disease may not show any symptoms for a long time, and options for the initial diagnosis in an adult are possible.

To date, experts have studied and described more than three hundred different signs of the disease and pathological disorders that occur in patients with celiac disease.

People suffering from this pathology gradually develop symptoms of a malfunction of the organs and systems of the body (mainly the digestive tract) with subsequent changes in other systems (hematopoiesis, endocrine, skin and nervous). The progression of inflammatory processes in the tissues of the intestine leads to a violation of the absorption of all the necessary substances necessary for the normal functioning of cells (nutrients, vitamins and minerals, trace elements). This is the reason for the diversity of symptoms - the lack of necessary factors that contribute to the normal functioning of the body gradually cause pathological changes in various organs and systems in patients with celiac disease, and the signs are diverse and may resemble the symptoms of diseases of various internal organs, especially if the patient has:

Background pathologies;

Changes in the functioning of the immune or nervous system (prolonged stress, impaired reactivity of the body, aggravated allergic anamnesis);

Congenital predisposition to the development of certain diseases (hypertension, bronchial asthma, strokes and heart attacks, VVD and others);

Metabolic disorders;

Hormonal changes in the body;

Long-term use of certain drugs (oral contraceptives, glucocorticoids, non-steroidal anti-inflammatory drugs).

An important factor is the earliest diagnosis of celiac disease.

You also need to know that celiac disease is never cured and cannot go away on its own. However, the symptoms of celiac disease can change as a person grows older.

According to these signs, depending on age, it is possible to most accurately track the pathogenesis and describe all possible manifestations of the disease.

Symptoms of celiac disease in teenagers

Often active manifestations of celiac disease (not diagnosed in childhood) occur in adolescents, which is directly related to rapid growth and hormonal changes in the body. Against this background, the body of a patient suffering from celiac disease experiences a pronounced lack of vitamins, trace elements, minerals, carbohydrates, proteins and fats, which appears as typical symptoms:

Low growth;

Delayed puberty.

Symptoms of celiac disease in children

The first signs of this disease in a child may begin to appear at an early age, most often a few weeks after the introduction of complementary foods - foods containing gluten.

It is important for parents to remember that in the absence of timely diagnosis and proper treatment, the progression of celiac disease leads to severe damage to all organs and systems of the baby, up to exhaustion and a significant lag in the baby's physical and mental development.

celiac disease symptoms in babies

The main manifestations of this disease in young children include:

Prolonged diarrhoea, with profuse, foul-smelling, watery stools, resembling those of an intestinal infection, but without excretion of the pathogen;

Vomiting or profuse regurgitation (in infants);

Refusal of the baby from food with poor weight gain and / or weight loss (hypotrophy, thinning of the subcutaneous fat layer, changes in tissue turgor);

The development of rickets, violations of the timing of teething;

Weakness, lethargy, loss of interest in the environment, which may alternate with periods of irritability and tearfulness.

Most often, these signs appear after the introduction of crumbs of gluten-containing foods (bread, cereals, pasta) into the diet - 7-8 months, and after their cancellation, the symptoms gradually disappear. Also an important factor is the absence of other signs of intestinal or viral infections, the lack of improvement with the use of antibiotics, antiviral and other drugs.

The main manifestations of this pathology in children from two to seven years old can be:

Unexplained paroxysmal abdominal pain that is dull in nature;

Frequent and causeless nausea;

Dyspeptic disorders with a tendency to diarrhea (with a change in the smell of the stool: intolerably unpleasant, and its consistency: watery, frothy) with an increase in the volume of feces;

Alternating diarrhea and constipation (without isolation of the pathogen or the absence of intestinal dysbiosis);

Slow growth and / or lag in physical development;

Violations of the timing of teething, progressive caries;

Intolerance to cow's milk protein;

Lethargy, weakness, drowsiness, indifference can be replaced by causeless whims, often with manifestations of aggression;

Frequent headaches;

It is important to know that along with the typical manifestations of celiac disease, a wide variety of symptoms can also appear associated with the progression of inflammation in the intestines, malabsorption of all essential nutrients, trace elements and vitamins.

Atypical signs of celiac disease include:

Stomatitis;

Skin diseases (dermatitis, eczema);

Arthritis;

Dysuric disorders (frequent urge, frequent urination at night, enuresis);

Baldness.

Celiac disease: symptoms in adults

In adults, celiac disease is manifested by signs that are associated with impaired functioning of the digestive tract.

This pathology is most often manifested by frequent dull pains of indefinite localization in the abdomen, which are accompanied by dyspeptic disorders and loose stools. The stools are watery and frothy in nature and tend to stick to the walls of the toilet, due to their high content of undigested fats and the presence of traces of blood in the stools. Less often, there is an alternation of constipation with the release of soft stools and diarrhea.

Celiac disease is also manifested by flatulence with the release of extremely unpleasant-smelling gases, constant nausea with a lack of appetite or, conversely, its increase.

Anemia

The main feature of anemia in this disease is the lack of a therapeutic effect after taking iron-containing preparations, due to poor absorption of iron preparations.

Signs of the manifestation of this pathology in young women are:

Violations of the regularity of menstruation;

Infertility or difficulty in getting pregnant;

miscarriage;

The birth of children with intrauterine malnutrition.

Skin rash in the form of itchy patches or blisters

These manifestations occur on the elbows, knees and buttocks and are called dermatitis herpetiformis and disappear immediately after the elimination of foods that contain gluten.

The appearance on the surface of the teeth of small grooves or depressions of a yellowish-brown color

This sign occurs as a result of a violation of the formation of tooth enamel, but its presence proves a high risk of celiac disease.

This sign does not affect milk teeth, therefore it is present only in adults.

Increasing the level of ALT and AST of unexplained origin

One of the signs of celiac disease in adult patients is an increase in the blood level of these indicators, after the exclusion of foods containing gluten from the diet, these indicators return to normal.

Osteoporosis

One of the most common manifestations of celiac disease is increased bone fragility (osteoporosis), caused by malabsorption of calcium and vitamins. Pathological fractures and frequent bone pain are considered signs of osteoporosis. Normalization of bone density is observed after the abolition of products containing gluten.

Changes in the neuropsychic sphere

In rare cases, adult patients with celiac disease may present with symptomatic epilepsy, depressive states, signs of neuropathy in the form of paresthesia and numbness of the extremities, and anxiety disorders that are practically untreatable and disappear after switching to a gluten-free diet.

There are also asymptomatic variants of the course of celiac disease, when the disease does not manifest itself, but pathological changes in the body occur. All this without proper treatment and diet therapy can lead to the development of severe complications, including various autoimmune bowel diseases (Crohn's disease) or malignant neoplasms (small intestine cancer).

Celiac diagnosis

Diagnosis of this disease is based on a combination of a number of examinations of the patient:

Analysis of clinical symptoms typical and atypical for celiac disease;

Laboratory indicators: clinical blood and urine tests, feces (coprograms);

The results of colonoscopy to determine the foci of chronic inflammation, ulcerative necrotic changes and other signs of damage to the small intestine mucosa;

Ultrasound of the abdominal cavity and, if necessary, X-ray examination of the intestine;

Immunological and genetic tests;

Fibrogastroscopy with biopsy of the intestinal mucosa.

Tests for celiac disease

Refined diagnosis: "celiac disease" is determined only after histological confirmation. This examination is carried out by fibrogastroduodenoscopy with tissue sampling from the small intestine (biopsy). But before prescribing these complex examinations, specialists must determine the possibility of developing this disease or a predisposition to its occurrence in a particular patient. Therefore, an immunological blood test and a genetic test are prescribed first.

Blood test for celiac disease

An immunological blood test for celiac disease is carried out in order to detect the presence of specific antibodies in the patient's blood, which are formed in the body immediately after the contact of the patient's immune system and gluten protein.

If a high level of antibodies is detected, a high probability of celiac disease is determined, but this analysis does not give an accurate answer.

Genetic analysis for celiac disease

Genetic analyzes reveal the presence of genes that determine the predisposition to the development of this pathology.

This analysis shows the presence or absence of these genes and the likelihood of developing celiac disease in a patient.

Their absence means that a person cannot have celiac disease and there is no need for further examination.

When these genes are detected, only the likelihood of this pathology is determined, but this does not mean that the patient is necessarily ill with celiac disease.

Analysis of the history of the disease, the presence of typical and / or atypical manifestations indicates the need for a histological analysis of intestinal tissues.

Biopsy and histological analysis for celiac disease

Histological analysis of the tissues of the small intestine gives a high accuracy of the corrected diagnosis of celiac disease. This examination is carried out by fibrogastroduodenoscopy with tissue biopsy and detection of typical changes in cells and tissues.

In patients with dermatitis herpetiformis, a biopsy of the affected areas of the skin is performed with a histological analysis of cells in order to detect specific immune complexes.

After establishing the final diagnosis, the most important point is the timely and correct treatment of the disease.

Many experts believe that "celiac disease is not a disease, celiac disease is a way of life" and rightly so, the main thing in the treatment of celiac disease is the exclusion from the diet of foods containing gluten. And subject to a gluten-free diet, a patient suffering from celiac disease is completely healthy, because the inflammatory reaction in his intestines completely stops without contact with gluten.

The complete disappearance of signs of the disease depends on the state of health of the person before the start of treatment and takes from several months to several years. In children, the normalization of the functioning of the intestine occurs on average within six months after the start of the diet. In adult patients, this process is longer - up to 2 years.

Patients who find it difficult to limit themselves and completely abandon bread and other products containing gluten should be aware of the development of serious complications in the form of severe fractures, malignant neoplasms or other severe pathologies of the internal organs, steadily progressing without proper treatment.

Celiac disease treatment in adults

The therapy of this complex disease in adult patients has several stages aimed at reducing the inflammatory response and restoring the normal functioning of the intestine (enzyme therapy, taking probiotics, vitamin therapy), but first of all, a strict diet is prescribed that excludes all foods containing gluten from the diet.

Diet therapy in adults

An important factor in the treatment of this disease is the exclusion of the pathological effects of the resulting specific immune complexes, which are formed when products containing gluten enter the patient's intestines - transfer to a permanent strict diet with and exclusion of all prohibited foods from the patient's diet.

Therefore, patients need to know an approximate list of these products:

Bread and any products made from flour of wheat, oats, barley and rye;

All pasta and cereals from these cereals;

Butter dough, cookies, cakes;

Canned food, sausages and semi-finished meat products;

It is undesirable to eat whole milk, yogurt and ice cream due to the possible occurrence of cross-allergy to these products.

In the diet, you can enter products from buckwheat, corn, rice and soybeans, legumes, potatoes, all vegetables and fruits, fish and lean meat, vegetable oil and cottage cheese.

It is not advisable to take hot or cold food, with this disease it is better to cook dishes for a couple, excluding fatty and fried foods, smoked meats, dyes and preservatives.

The complete exclusion of gluten from food allows you to eliminate its irritating effect on the walls of the small intestine and gradually restore the affected organs.

The use of drugs for celiac disease

In addition to a strict gluten-free diet, some drugs are used to treat celiac disease, and this depends on the duration and severity of the inflammatory process in the intestine, as well as the presence of concomitant pathological conditions, but these appointments, their doses and duration of administration are determined by the specialist.

Quite often, in celiac disease, especially during the period of exacerbation and at the height of clinical manifestations, enzymes and probiotics are prescribed to normalize the functioning of the pancreas, liver and gallbladder, regulate the work of all exocrine glands, and restore the intestinal microflora. This treatment is selected by a gastroenterologist. Additionally, vitamins and microelements are prescribed, which are also selected by the doctor.

Diet for celiac disease in babies

A fundamental factor in the correct treatment of celiac disease in young children is also the correct diet.

As a rule, many parents notice changes in the child's well-being and the manifestation of clinical manifestations after the introduction of foods containing gluten into the baby's diet: complementary foods or switching to artificial feeding with cow's milk cereals (semolina, oatmeal) or mixtures containing oatmeal in its composition.

This is an important aspect in case of suspected celiac disease, therefore it is necessary:

Immediately exclude these foods from the baby's diet and keep a diary in which all new dishes and the reaction of the crumbs to their introduction are recorded;

Continue breastfeeding as long as possible - this is the key to the health of the child;

Follow all the requirements for the introduction of complementary foods, starting with dairy-free monocomponent cereals.

If the baby is bottle-fed before buying a mixture, familiarize yourself with its composition and consult a specialist.

If you are an active Internet user and are interested in a healthy lifestyle, then surely in any forums and blogs dedicated to a healthy lifestyle, you have come across ardent propagandists of a gluten-free diet, which completely excludes the protein contained in products made using wheat, rye , oats or barley. People who have crossed out bread and porridge from their diet in order to lose weight are acting stupidly, because they deprive their body of a lot of useful substances.

However, for the 1% of the world's inhabitants suffering from intolerance to cereal gluten protein, a gluten-free diet is vital. The use of this protein in patients with celiac disease leads to irreversible digestive disorders, so timely detection of the disease is a condition for recovery. More often, the disease develops in early childhood, which requires increased attention from parents to the health of the child.

Celiac disease is a hereditary disease characterized by atrophy of the mucous membrane of the small intestine caused by intolerance to the cereal gluten protein (gluten).

A clear mechanism for the development of gluten intolerance has not been identified, but the researchers concluded that there is a genetic predisposition to the development of this disease. There is a high risk that relatives in a straight line will pass this disease from generation to generation. The probability of developing celiac disease among brothers, children and parents of a patient with gluten intolerance is 10%, which is 10 times higher than the average in the population.

The second factor conducive to the development of the disease is immunological sensitization to gluten. Patients have antibodies in their blood that are specific to the enzymes involved in the metabolism of this protein.

The triggering factor in the development of autoimmune intestinal damage in case of gluten intolerance is a stressful situation, rheumatic diseases, acute viral diseases.

So, the panel "Gluten Metabolism" includes the analysis of seven polymorphisms. In this profile, the study of immune regulation genes and the identification of the risk of developing gluten intolerance is carried out.

Indications for research:

• allergy;
• disorders of gluten metabolism;
• HLA-dependent celiac disease;
• low body mass index;
• stool disorders.

The study includes analysis 7 polymorphisms.

Autoimmune diseases IL22

HLA DQ2.2 (3), DQ2.5, DQ7, DQ8

According to the results of the study, you get the conclusion of a geneticist.

Identification of haplotypes of two DQ2-DQ8 molecules responsible for hereditary predisposition to celiac disease (typing - identification of varieties).

Russian synonyms

Genetic diagnosis of celiac disease.

English synonyms

Diagnosis of celiac disease (HLAtyping DQ2DQ8).

What biomaterial can be used for research?

Venous blood.

How to properly prepare for research?

• Do not smoke for 30 minutes prior to the study.

General information about the study

Celiac disease (gluten enteropathy) is a chronic autoimmune disease that affects the digestive tract of genetically predisposed (HLA - DQ2, HLA - DQ8) individuals who have intolerance to the main protein of cereals (gluten). Celiac disease causes chronic inflammation of the mucous membrane (SO) of the small intestine, leading to its atrophy, malabsorption, while it is possible to fully restore the function of the organ in response to the cessation of contact with gluten (gluten-free diet).

HLA stands for "human leukocyte antigen" which is a specific molecule found on the surface of cells. There can be up to 100,000 such molecules on the surface of one cell, but two are associated with the development of celiac disease: HLA - DQ2, HLA - DQ8.

Gluten intolerance is associated with HLA haplotypes, and the risk of developing celiac disease is due to at least two genetic loci that are involved in the final immune response. More than 5% of the modern population has a genetic predisposition to celiac disease.

The predisposition to celiac disease is carried by the HLA-DQ2 and HLA-DQ8 genes. Accordingly, if the analysis shows that the person being examined does not have these genes, it means that he cannot have celiac disease and there is no need to subject him to further examination.

On the other hand, the discovery of these genes does not mean that a person is necessarily ill with celiac disease. Their presence only means that the subject has a predisposition to its development and that he needs a histological analysis of the tissues of the small intestine to make a final diagnosis.

The analysis is highly sensitive, although it does not have 100% specificity - these genes can also indicate a predisposition to other pathologies. The study is a convenient way to diagnose, because. does not require, unlike histology, complex obtaining of biomaterial. This method is especially useful if there is reason to suspect gluten intolerance, but blood tests for antibodies are negative and a biopsy is not desirable (because of the inconvenience or intolerance of the procedure).

What is research used for?

• To determine predisposition to celiac disease.

When is the study scheduled?

• In doubtful cases when establishing the diagnosis of "celiac disease" (detection of HLA DQ2, DQ8 haplotypes makes the diagnosis more likely, and their absence makes it possible to remove suspicion).

What do the results mean?

Reference values: celiac disease risk haplotype HLADQ2/DQ8 was not detected.

The presence or absence of alleles of predisposition to celiac disease is indicated.

• celiac disease Screening (adults and children over 2 years old)
• celiac disease Screening for selective IgA deficiency

Who orders the study?

Geneticist, gastroenterologist.