Celiac disease is the current state of the problem. Analysis for celiac disease: what is celiac disease and what types of tests diagnose the disease Diagnosis of celiac disease in children what tests

Celiac disease or celiac disease, is a chronic immune-mediated disease. It is caused by the influence of gluten on the body of genetically predisposed individuals.

Gluten- proteins from cereals: rye, barley or wheat. It should be noted that only oats in 95% of cases for patients with celiac disease are non-toxic. You can recognize this disease by the symptoms of an upset digestive tract.

After eating gluten, a person is faced with a change in appetite, nausea and vomiting, diarrhea, flatulence, and abdominal pain.

In the case of prolonged neglect of intolerance, he develops hypocalcemia and iron deficiency anemia, and body weight decreases.

Quite often, people are diagnosed with an atypical form of celiac disease. It is characterized by less manifestation of signs of the disease. Gastrointestinal symptoms may be mild or absent altogether.

It is possible to recognize such a disease by serious consequences: prolonged anemia, damage to tooth enamel, short stature, osteoporosis.

If left untreated for a long time, a person may develop malignant tumors in the gastrointestinal tract or serious autoimmune abnormalities.

The reasons

Many experts believe that gluten intolerance is caused by structural features of the small intestine mucosa. Because of this, the body reacts specifically to the effects of gliadin. The following reasons can provoke such a deviation:

1. A feature of the structure of receptors in the intestine, which can also be damaged by any viruses.
2. Congenital anomalies of receptors in the intestine, which independently destroy the epithelium.
3. Excessive sensitivity to gliadin of the intestinal mucosa, due to which the immune system begins to work against the epithelium.
4. The impossibility of splitting polypeptides by enzymes, because of which they have a toxic effect on the mucous membrane of the small intestine.
5. Eating a lot of foods containing gluten.

Studies have shown that celiac disease can be safely attributed to hereditary diseases. There is no exact data on how it is transmitted, however, experts are increasingly of the opinion that it is in an autosomal dominant way.

Usually in 10% of cases, patients with gluten intolerance have close relatives who also suffer from this disease.

Manifestations

Diagnosing celiac disease based on symptoms alone is extremely difficult. Quite often there are cases when, according to the described symptoms, doctors adhere to the tactics of treating a completely different disease for a long time.

Because of this, the pathology starts, more serious deviations form. It used to be thought that gluten intolerance was a disease exclusively of the gastrointestinal tract that occurs in young children.

It is in them that after the introduction of this substance into the diet, the absorption of nutrients is disturbed. Modern studies have shown that the manifestations of this disease are extremely diverse, and they can occur absolutely at any time in a person’s life.

Children suffering from celiac disease, after eating foods containing gluten, began to dramatically reduce their body weight. He regularly had diarrhea, characterized by a sharp unpleasant odor.

All this is accompanied by bloating and constant regurgitation of food. Over time, they have, leading to iron deficiency anemia.

In addition, protein deficiency occurs, which manifests itself in the form of swelling of the abdomen. The behavior of the child also changes: he becomes more restless, irritable and capricious. Despite advances in modern medicine, hundreds of babies die from this disease every year.

The manifestation of celiac disease in adults looks a little different. They also affect the gastrointestinal tract: constipation and diarrhea occur with the same frequency, nausea and vomiting appear after eating.

People note unpleasant pains in the center of the abdomen, they swell, there is a sharp decrease in body weight. In the case of damage to the extraintestinal region, a serious iron deficiency anemia is formed, affecting sexual development.

It can lead to infertility, miscarriage and stillbirth. Softening of bone tissue, stomatitis, and an increase in the concentration of liver enzymes in the blood can also indicate gluten intolerance. In some cases, the concentration of vitamins and minerals in the blood may decrease.

In rare cases, celiac disease occurs in a latent form - its symptoms are completely absent. In such cases, gluten intolerance can only be diagnosed with the help of laboratory and instrumental studies.

Usually, tests for this disease are regularly carried out for people whose close relatives are struggling with this pathology. Prolonged lack of treatment can lead to the development of the most serious complications, which can not only spoil the quality of life, but also lead to death.

Types of tests for celiac disease

It will be possible to diagnose celiac disease only with the help of a special analysis. However, its implementation requires compliance with a number of certain preparatory rules.

In general, they are the same for all tests that help detect gluten intolerance.

Diagnosis of this disease includes the following studies:

• Histology of scrapings from the small intestine.
• Detailed biological analysis of blood.
• Fecal analysis.
• immune tests.

Preparation for donating blood for a biochemical study takes place according to the general scheme. It is necessary to take the analysis only on an empty stomach.

2 hours before the study, it is allowed to drink a glass of pure non-carbonated water. A few days before the sampling, doctors recommend that you stop eating fatty, fried, high-calorie foods.

You should also give up spices and smoked meats. Alcohol and strong drinks are strictly prohibited. These foods can easily provoke inflammation in the small intestine.

To obtain more accurate results, it is necessary to stop taking medications for a while. Also give up intense physical exertion, minimize emotional stress.

For the study of feces, only morning waste is taken, which must be delivered to the clinic at.

An immunological blood test is also performed on an empty stomach. An analysis for celiac disease is prescribed only if there are serious indications, since the study is quite expensive.

Endoscopy as a diagnostic method

If the doctor suspects celiac disease, he immediately sends the patient to the endoscopy. This study allows you to get samples of the small intestine mucosa, which are subsequently sent for advanced analysis.

Usually, during a biopsy, the doctor takes the material from several points at once below the branch of the duodenum. Only in rare cases, samples indicating gluten intolerance, what your doctor should tell you about it, are found only in the large intestine.

In the absence of changes in the mucosa, the doctor makes an appointment for a re-examination of the Treitz ligament. The resulting material is placed in formalin, after which it is carried out.

In patients with celiac disease, endoscopic examination reveals the following changes:

• Visible vascular pattern.
• Disappearance or visible reduction of the fold.
• Scalloped folds.
• Nodularity.
• Mosaic of the mucous membrane.

Proper nutrition

Celiac disease is a chronic disease that requires constant adherence to a special gluten-free diet. It is very important to completely avoid foods containing gluten.

Such people should eat exclusively at home in order to prevent cereals or their components from getting into food. Even the smallest amount can cause serious consequences.

Food for celiac disease may consist of the following foods:

• Buckwheat, rice, millet and corn are gluten-free sources of energy and nutrients.
• Meat, fish products and eggs.
• Vegetables, fruits and herbs.
• All kinds of nuts.
• dairy products.
• offal.
• Baking, in the preparation of which starch was not involved.
• Tea, rosehip broth, compote or fruit drink.

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Celiac disease (gluten-sensitive enteropathy) is a systemic autoimmune disease. Celiac disease is accompanied by inflammation and atrophy of the villi of the small intestine mucosa and the appearance of a number of autoantibodies against the body's own proteins and gluten.

Celiac disease develops in people who have certain alleles of the immune response genes - HLA-DQ2 and HLA-DQ8, which are part of the HLA-DR3 genotype. Carriage of genes does not allow the diagnosis of celiac disease, since the disease develops only in a small part of carriers, but allows it to be excluded in the absence of predisposing HLA-DQ2 and HLA-DQ8 alleles.

In the presence of characteristic symptoms to confirm the diagnosis celiac disease an endoscopic examination with a biopsy of the small intestine is necessary. Only the presence of pronounced changes characteristic of celiac disease is the basis for the appointment of a lifelong gluten-free diet. The detection of autoantibodies to tissue transglutaminase 2, confirmed by the detection of antibodies to endomysium, antibodies to gliadin peptides or reticulin, is an indication for endoscopic examination with morphological analysis of a biopsy of the small intestine wall (ESPGHAN, 2012). The detection of autoantibodies complements the morphological findings established by the analysis of the biopsy and makes it possible to exclude in some cases an invasive and painful procedure.

When interpreting negative serological results, the previous diet must be taken into account, since antibody titers to tissue transglutaminase 2, endomysium, gliadin peptides, or reticulin fall below the detection threshold six months after switching to a gluten-free diet. Antibody monitoring at 12 months can be used to assess dietary compliance.

Antibodies to tissue transglutaminase 2.

Tissue transglutaminase is an enzyme that is widely distributed in many organs. There are eight varieties of this molecule in total. Only one form of transglutaminase (transglutaminase 2), which is expressed in the intestine, is the main target of antibodies in celiac disease. The main function of tranglutaminase is the formation of cross-links of connective tissue proteins, which makes them mechanically strong and resistant to proteolysis.

Increased activity of tissue transglutaminase in the intestinal wall leads to deamination of molecules alpha gliadin, resulting in the formation of proteolysis-resistant deaminated fragments of the gliadin– deamidated gliadin peptides (DPG). These fragments have a high affinity for the HLADQ8/DQ2 alleles of major histocompatibility complex proteins, the carriage of which predisposes to the development of celiac disease. As a result of sensitization, tissue transglutaminases and gliadin fragments become immunogenic and induce a humoral and cellular immune response.

Best for early diagnosis ( screening) celiac disease with an unclear clinical picture is the detection of antibodies to tissue transglutaminase class 2 IgA (TSH2 IgA). It is advisable to combine the detection of autoantibodies with the study of the concentration of immunoglobulin A (IgA) in the blood serum. In case of primary (genetic) or secondary insufficiency of IgA synthesis, it is necessary to use tests to detect antibodies to tissue transglutaminase of the IgG class. Absence of autoantibodies in a patient with intact IgA synthesis makes the diagnosis of celiac disease extremely dubious. Further examination is advisable to carry out only with additional indications. At low serum IgA concentrations (less than 0.2 g/l) in persons over 5 years of age, the examination should include at least one test for the detection of specific IgG class autoantibodies, primarily autoantibodies to tissue transgulutaminase class 2 IgG.

Antibodies to tissue transglutaminase IgG class should be used as an auxiliary test for the diagnosis of celiac disease, especially in those patients who have reduced synthesis of immunoglobulin IgA. Antibodies to transglutaminase of the IgG class are inferior in specificity to antibodies of the IgA class, so the diagnosis of celiac disease should be based on a combination of clinical, laboratory, instrumental and morphological data.

Antibodies to gliadin.

Gliadin is an alcohol-soluble fraction of gluten, which, in turn, is a component of glutenopectin (the protein part) of cereals. Gluten provides the elasticity of flour dough and due to this property is widely used for the preparation of not only bakery products, but also in the production of many other food products. Cereal gluten contains more than 50 different gliadin proteins that are relatively resistant to enzymatic degradation in the gastrointestinal tract.

Another reason for the development of celiac disease is the immaturity of tight junctions between the cells of the small intestinal mucosa in children, as this leads to the penetration of alpha-gliadin fragments into the submucosa. Increased activity of one of the connective tissue enzymes (intestinal tissue transglutaminase) in the intestinal wall leads to deamination of alpha-gliadin molecules, resulting in the formation of proteolysis-resistant gliadin fragments. These linear antigens are well characterized and are called deamidated gliadin peptides (DPG). Tissue transglutaminase 2 and gliadin fragments become immunogenic and induce a humoral immune response.

First-generation tests for the detection of antibodies to gliadin classes IgG and IgA were relatively non-specific, since antibodies were noted in a variety of diseases of the gastrointestinal tract, bacterial and viral infections. At present, first-generation anti-gliadin assays are not recommended for clinical use (ESPGHAN2012). The result of the use of first-generation tests is the overdiagnosis of celiac disease, which leads to the erroneous prescription of a gluten-free diet.

Tests second generation GAF-3X, which use linear deamidated gliadin peptides as antigens, is much more sensitive and specific (up to 95% and up to 98%, respectively). In celiac disease, antibodies to gliadin IgG peptides are more common in children than in adults. In celiac disease in children less than 5 years of age, antibodies to DPG can be detected with negative results for antibodies to tissue tranglutaminase 2.

Since the clinical and laboratory parameters for the detection of antibodies to deamidated gliadin are inferior to the detection of antibodies to transglutaminase and endomysium, it is recommended to use antibodies to deamidated gliadin as additional laboratory tests for the diagnosis of celiac disease at a young age. Detection of antibodies to deamidated gliadin is advisable in children under 2 years of age, since antibodies to gliadin appear first after the introduction of complementary foods containing gliadin.

Individuals with a primary deficiency in serum IgA synthesis (primary selective immunodeficiency) are predisposed to developing celiac disease, but their serological markers of the IgA class turn out to be false-negative. If the serum IgA concentration is low (less than 0.2 g/l), the examination should include at least one test to detect specific IgG class autoantibodies.

Antibodies to endomysium.

Endomysium is a connective tissue surrounding muscle cells, which contains nerves and vessels that carry out muscle trophism. The endomysial fibers in the striated muscles are thin, while in the smooth muscles the endomysium forms the supporting framework (stroma) of the muscle layers. The main proteins of the endomysium are collagen and elastin. In the process of their synthesis, they undergo enzymatic modification using the enzyme tissue transglutaminase. The role of this enzyme in connective tissue is the deamination of a number of amino acids with the formation of protein structures resistant to proteolysis, which support the structures of connective tissue. It is tissue transglutaminase 2 that is the main antigen of antibodies to endomysium in celiac disease.

In the early detection of celiac disease, anti-endomysial IgA antibodies have a sensitivity of about 95% and a specificity greater than 98%. Due to the use of the indirect immunofluorescence method using native antigens, the detection of antibodies to endomysium is well standardized, which allows this indicator to be used as a reference test to confirm the detection of antibodies by other methods (ESPGHAN, 2012). To confirm the diagnosis of celiac disease, detection of high titers of antibodies to tissue transglutaminase 2 class IgA using a second-generation test must be confirmed by detection of antibodies to endomysium (IgA). In this case, the diagnosis of celiac disease can be made without endoscopy.

The detection of both antibodies to endomysial IgA class and antibodies to tissue tranglutaminase IgA and IgG classes indicates a high probability of celiac disease. At the same time, antibodies to endomysium can be used as a confirmatory test in the detection of antibodies to tissue transglutaminase of the IgA class. Low-positive levels of antibodies to tissue transglutaminase 2 can be found in a number of autoimmune diseases, infections, tumors, myocardial injury, liver damage, and psoriasis. Due to the high specificity of the test, antibodies to endomysium are usually not detected in these cases, which allows the use of antibodies to endomysium as a serological method for confirming the diagnosis of celiac disease.

The sensitivity of detection of autoantibodies may be slightly lower in children under 2 years of age due to low production of IgA immunoglobulin, as well as in individuals with selective IgA deficiency and in subjects receiving immunosuppressive therapy.

Antibodies to reticulin.

Reticulin consists of type III collagen fibers and is involved in the formation of three-dimensional mesh structures of the stroma of parenchymal organs. Historically, several varieties of antibodies to reticulin fibers, called R1, R2, R3 and R4, have been described. It has now been established that the main antigen of antibodies against R1 fibers in the wall of the small intestine and liver is tissue translutaminase 2. At the same time, some antibodies to reticulin react with other fiber components, primarily actin, which acts as a minor target, characteristic of celiac disease. Other antigens of antireticulin antibodies are connective tissue proteins: desmin and calreticulin.

Anti-reticulin (R1) antibodies of the IgA class are highly specific for the diagnosis of celiac disease and are observed in 20-40% of patients with this disease. There is cross-reactivity of high titers of antibodies to tissue transglutaminase IgA class and antibodies to reticulin R1.

Celiac disease is an autoimmune disease of a hereditary nature, the essence of which lies in the patient's intolerance to a special protein - gluten. This disease is difficult to detect in adults, as the symptoms are similar to other diseases of the lower gastrointestinal tract. Therefore, to diagnose celiac disease, you need to undergo special tests.

Diagnosis of the disease includes various methods.

Immunological tests

With the help of this type of research, the presence of antibodies is determined. They are formed as a result of the reaction of the human immune system to the ingestion of gluten-containing products into the esophagus.

These types of tests include tests for the presence of antibodies:

• against tissue transglutaminase;
• type Ig A Ig G against endomesia.

To obtain material for testing, you need to donate blood from a vein.

If the screening shows positive results, then there is a possibility that a person has celiac disease, but a number of other examinations are needed to confirm, since a diagnosis cannot be made from the results of a single test.

Genetic analyzes

To diagnose celiac disease, the patient may undergo research. They can detect genes that justify the hereditary tendency to the disease. If a patient has a predisposition to celiac disease, genes such as HLA-DQ8 and HLA-DQ2 will be detected in their test results.

Genetic research can detect genes that indicate a hereditary predisposition to the disease.

If genetic analysis does not find any of these genes, this means that a person cannot get celiac disease. At this point, the tests that are aimed at diagnosing enteropathy stop.

If a person has these genes, it does not necessarily mean that the person is sick. The presence of genes may indicate the genetic possibility that the disease will occur. But to confirm the disease, the patient is sent for other tests, for example,.

Other tests

• Diagnosis of celiac disease may require the following tests.
• Densiometry is a test that determines bone density. The test may reveal osteomalacia (rickets in a child) or osteoporosis. These diseases can accompany celiac disease.
• An analysis of feces, in which it is determined that the amount of excreted fat differs from the norm upwards.
• Pictures of the upper part of the digestive system. This test detects abnormalities in the small intestine. The use of this method is rare, since the test does not show a specific reason for the rejection. non-informative method.
• A blood test for celiac disease includes a general laboratory test that can show a low hemoglobin level (anemia), biochemistry, which will help diagnose electrolyte imbalance. In the blood, a decrease in the level of substances such as albumin, protein, iron, prothrombin, glucose, magnesium, etc. will be detected. With celiac disease, an increase in bilirubin may be observed in the analysis. The following analyzes are carried out:

1. conducting tests regarding the function of intestinal absorption (using a test with D-xylose, an analysis for the release of plasma protein in the stool, lipidogram of feces);
2. blood test for cortisol, T3, growth hormone, TSH and T4.

Urine tests are used for diagnosis, although they do not provide much information. Only in severe form of celiac disease will appear albuminutria and microhematuria.

The coprogram will show that the feces are watery, the color is light yellow, possibly with a gray tint, there is a greasy sheen. A coprogram with a detailed analysis will show steatorrhea (the amount of fat is much higher than normal).

Sometimes the LIF factor is applied. Express tests are popular when pests are added to the blood serum.

Diagnosis for celiac disease is carried out in the following main areas:

• endoscopy;
• morphological diagnostics;
• diet-based research;
• clinical researches;
• immunological and serological laboratory tests for antibodies and autoantibodies (AAA, AGA, ATTG, ARA, AEMA and antibodies regarding histocompatibility HLA - DQ2, DQ8).

Endoscopy is performed to extract material for morphological analysis.

Esophagogastroduodenoscopy is performed in order to extract materials that are later used for morphological analysis. The sampling is carried out in 3 different areas of the duodenum. If there are no changes, you need to take a biopsy from the ligament of Treitzt. The materials are placed in formalin with the epithelium up on paper.

The method of endoscopic analysis of the duodenum can be identified:

• mosaic of the mucosa;
• nodularity;
• alignment of the folds of the intestine;
• vascular networks;
• scalloped fold.

Most often, such deformations occur at the bottom of the intestine. Zoom endoscopy and capsule endoscopy are more sensitive in screening for celiac disease.

Celiac disease (or celiac disease, Guy-Herter-Heibner disease, non-tropical sprue, intestinal infantilism, flour disease) is an intestinal disease that has a genetic cause and is characterized by gluten protein intolerance and chronic inflammation of the small intestinal mucosa.

Gluten (gluten) is a protein found in cereals (rye, wheat, barley, to a lesser extent oats). The protein contains L-gliadin, an alcohol-soluble glycoprotein that activates autoimmune aggression, has a damaging effect on the intestinal mucosa, causes inflammatory and atrophic processes, and disrupts the absorption of nutrients in the intestine.

Celiac disease occurs with a frequency of 1: 300 - 1: 3700. Women get sick almost twice as often as men. The disease is most common in America, Northern Ireland, Austria and Italy.

Causes of celiac disease

The reason for the development of celiac disease has not yet been fully studied, the main risk groups and trigger factors have been identified.

1. genetic predisposition- a defect in the enzyme gliadinaminopeptidase, which is responsible for the breakdown of gluten (in 10-15% of cases, heredity is traced, in twins up to 75%).

2. immune disorders(the disease is significantly more often detected in people who already have an autoimmune pathology: type 1 diabetes mellitus, rheumatoid arthritis, dermatitis herpetiformis, autoimmune thyroiditis, alopecia, scleroderma, as well as in patients with hereditary syndromes: Down, Turner and Williams).

Also, a relative risk factor is the presence of other intestinal pathologies (congenital or acquired), as the sensitivity of cells to gluten increases.

Carrying genes does not mean a disease, it develops only in some carriers and this often requires certain additional factors. Pregnancy, deterioration of the course of an autoimmune disease, acute viral infection, stressful situation, surgical intervention on the intestines can serve as a triggering factor.

In children, the disease manifests itself most often with the introduction of complementary foods with cereals, but it can manifest itself later, 5-6 months after the introduction of complementary foods or the start of artificial feeding with gluten-containing mixtures, sometimes after suffering ARVI, an intestinal infection. In some cases, the first manifestations of the disease appear at the age of 2-3 and even 10 years.

Symptoms of celiac disease

With celiac disease, the intestinal mucosa is affected, atrophy of the villi of the small intestine occurs, which leads to a violation of the absorption of nutrients from food. These processes cause all the symptoms of the disease.

Symptoms of celiac disease in children

Weight gain is slow and not up to standard,
- slow growth
- rachiocampsis,
- frequent regurgitation, vomiting,
- irritability, moodiness, episodes of aggression and apathy, lethargy,
- paroxysmal pain in the abdomen of a dull nature,
- a change in the nature of the stool (its quantity increases, it acquires a frothy, mushy character, a shiny appearance and a sharply unpleasant odor),
- chronic or intermittent diarrhea,
- swelling,
- delay in teething, early caries,
- intolerance to cow's milk,
- rickets,
- secondary immunodeficiency (special susceptibility to infectious diseases).

These symptoms can appear both individually and in combination. Further, girls may have problems with the formation of menstrual function, the likelihood of developing polycystic ovaries increases, and boys have sexual dysfunction.

Symptoms of celiac disease in adults

Diarrhea up to 5-6 times a day, alternating constipation and diarrhea,
- an admixture of blood in the feces, less often an abundant admixture of blood, caused by ulceration of the intestine with a rupture of the vessel
- chronic anemia, rarely thrombocytopenia,
- coagulopathy (clotting disorder due to malabsorption of vitamin K),
- hypotension,
- bloating and rumbling (flatulence),
- cramping pains in the umbilical region,
- nausea and vomiting,
- weight loss, weakness,
- osteopenia and osteoporosis (bone fragility),
- frequent caries, aphthous (ulcerative) stomatitis,
- skin rash
- dryness and flaking of the skin,
- reduction of the spleen in size,
- arthritis without deformities,
- gynecological problems (menstrual irregularities, amenorrhea),
- impotence,
- hepatitis (inflammation of the liver), which developed without an objective cause,
- migraine attacks, drowsiness, in some cases convulsive seizures, depression, numbness of the arms and legs, panic attacks can be observed,

Atypical forms of celiac disease (nephropathy, endocrinopathy) are extremely difficult to diagnose. Latent (hidden) celiac disease proceeds almost imperceptibly, with rare bouts of intestinal disorders for no apparent reason, there are minor skin rashes. Difficult to diagnose and dangerous.

Diagnosis of celiac disease

Diagnosis is difficult, especially because they do not think about celiac disease and try to treat individual symptoms (arthritis, diarrhea, stomatitis).

Start with a routine examination:

A general blood test (in the KLA there may be a decrease in hemoglobin, a decrease in the size of red blood cells), in a detailed analysis, a decrease in T and B-lymphocytes (protective cells responsible for various types of immunity) is observed
- general urinalysis (OAM)
- a biochemical blood test (with celiac disease, there may be a decrease in cholesterol and protein, impaired glucose tolerance, an increase in ALT, AST) and an analysis for the content of vitamin B12 (its amount is reduced)
- coagulogram (indicators of blood clotting)
- coprological examination: poorly formed yellow-brown or gray-yellow feces with undigested food residues, microscopically: fatty acids, soaps, the presence of starch grains and iodophilic flora
- microbiological examination of feces: dysbacteriosis of varying severity, a decrease in the number of protective strains of Escherichia coli, the growth of hemolytic flora, lactone-negative enterobacteria, Proteus
- Ultrasound of internal organs
- FGDS

Densitometry (measurement of bone density) may be ordered.

Stage I: a combination of 3 main symptoms or 2 main and additional symptoms - suspicion of celiac disease.

Stage II - serological: an increase in the level of antibodies of types M and G to gliadin and tissue transglutaminase (ATTG). Antibody levels are measured BEFORE a gluten-free diet is prescribed. The material is venous blood.

High titers (10 times normal or more) indicate a high likelihood of celiac disease.

The next step is the determination of AEMA (autoantibodies in endomysium) in the blood and HLA typing (genetic analysis, genetic typing with the search for defective genes).

The genes of the HLA system are responsible for distinguishing between self and foreign cells of the body and are associated with the immune system. Of the entire set of HLA genes available for typing, HLA-DQ matters, seven HLA-DQ variants (DQ2 and DQ4-DQ9) are now known.
About 95% of patients with celiac disease are hereditary carriers of DQ2 (varieties DQA1 * 0501, B1 * 0201), or less often DQ8 (varieties DQA1 * 0501 or DQB1 * 0201).

These genetic markers are a necessary but not sufficient condition for the development of celiac disease and occur in approximately 30% of the population. Inheritance of the determining gene from both parents increases the risk of the disease and the development of complications.

The reason these genes increase the risk of celiac disease is that it increases sensitivity to gliadin and thereby activates the immune system and triggers the auto-aggressive process.

The presence of genetic markers of celiac disease determines the high probability of the disease, their absence virtually eliminates the risk of the disease.

A genetic study for the presence of DQ2 / DQ8 should be carried out in all patients with suspected celiac disease, as well as blood relatives of a person who has this diagnosis confirmed (the risk of inheritance in relatives is up to 15% depending on the degree of relationship, in twins up to 75%). It is also advisable to carry out genetic typing in persons with the following diseases: insulin-dependent diabetes mellitus, hypoglycemic conditions of unknown origin (unexplained low blood sugar), juvenile rheumatoid arthritis, autoimmune thyroid diseases, hepatitis of unknown etiology, cardiomyopathy.

However, there is not yet enough data to introduce population screening (i.e. 100% testing).

Positive results on all tests allow for a diagnosis of celiac disease and stage III is not required. If the result is doubtful, the transition to the next stage is shown.

Stage III - instrumental: biopsy (taking a piece of mucosa for microscopic examination) with the identification of mucosal atrophy and characteristic morphological features.

If it is technically impossible to carry out the second and third stages, it is recommended to prescribe a strictly gluten-free diet for a period of at least 6 months (with a significant decrease in weight and height indicators for at least 1 year) with dynamic observation. With a good clinical effect, the abolition of the diet is not indicated.

Treatment of celiac disease

Diet

The primary treatment for celiac disease is a lifelong strict gluten-free diet. Calories should be twice as high as in healthy people of the same age group. The principle of mechanical and chemical sparing is also observed. Meals are taken 5-6 times a day.

Following a lifelong diet is difficult, but following a few rules makes the process easier:

Cook food at home, so you can reliably control all the ingredients, if you are forced to use the services of a cafe / restaurant, then choose only familiar dishes and, having warned the chef about your problem, ask about the composition of the dish. Since we are not talking about whims, but about the state of health, you will certainly be met.
- Buy reputable brands and read product labels carefully, some are gluten free and are safe, gluten can be found in products including modified starch, dextrin, hydrolyzed vegetable protein, sauces and condiments.
- Now in many supermarkets there are special departments of products for patients with celiac disease, diabetes, you can also try ordering products via the Internet.
- If you cook for the family, then you should have separate utensils for cooking and eating, carefully wipe the work surfaces before cooking to prevent contamination with wheat flour and other foods that are prohibited for you, store your food separately in a closed container.
- The use of alcoholic beverages is allowed in small quantities, rum, tequila, wine, cognac, gin are allowed.
- Some dosage forms contain gluten, so always warn a doctor of any specialty about your disease (gluten is included in the shell of mezim, festal, complivit, allochol, liquid forms of novopassitis and others).
- Gluten can be found in cosmetic products such as lipstick.

Excluded in celiac disease: wheat (including semolina and couscous), rye, barley, oats, bread of all kinds, instant pasta and noodles, confectionery (cakes, gingerbread, waffles, cookies, dryers), ice cream, some yogurts, many cheeses, sausages, preserves, sauces, ketchup, vinegar, soy sauce, mayonnaise, candies with fillings, caramel, some chocolates, corn flakes, instant coffee, tea and cocoa, concentrated soups and stock cubes, crab sticks, margarine, breaded dishes , all products with dyes and preservatives, kvass, wheat and barley beer, wheat vodka, whiskey.

Products with a gluten content of more than 1 mg per 100 g of product are prohibited.

Allowed for celiac disease: rice, millet, buckwheat porridge (before cooking, cereals must be carefully sorted and washed, as it may be contaminated with wheat during cultivation, storage and transportation), products made from rice, corn flour, soy and potato starch, fruits, vegetables (including potatoes), vegetable fats, honey, meat, poultry, fish, eggs, low-fat caviar, tea, weak coffee, herbal teas, rosehip broth, soups on weak meat and fish broths.

At the beginning of treatment, the consumption of milk should be excluded or strictly limited, but then it is possible to expand the diet and include moderate amounts of previously prohibited products. From dairy products, sour-milk drinks and low-fat cottage cheese are best absorbed.

Medical treatment for celiac disease

- Enzyme preparations(pancitrate 1-2 capsules 3 times / day with meals, in children over 6 years of age, the drug is used as prescribed by a doctor, the dose is determined individually; Creon at a dosage of 10,000, 25,000, 40,000 units, the dose is determined individually depending on the severity of the condition; pangrol 10,000 2-4 capsules with meals; the duration of taking all of these drugs is determined individually).
- vitamin therapy(vitamins B1 and B6 subcutaneously, nicotinic acid intramuscularly or subcutaneously, dosages are individual)
- Treatment of excess bacterial contamination(colonization of microbes) of the intestine (furazolidone 2 tablets 4 times a day for 5-10 days, intetrix 2 capsules 2 times a day for 10 days under the control of a biochemical blood test, in particular liver enzymes, mexase 1-2 tablets 3 times a day up to 2-3 weeks).
- Treatment of dysbacteriosis(Bificol 3-5 doses 2 times a day up to 4-6 weeks, enterol 1-2 capsules 2 times a day for 7-10 days).
- Treatment of anemia (ferrous sulfate 0.5-1 grams 4-5 times a day immediately after meals, folic acid 5 mg per day for a long time).
- Calcium and vitamin D supplements(selected individually).
- Treatment for depression(treatment is selected individually).
- If within 3 months there is no positive response to a gluten-free diet, then a course of metronidazole (trichopolum) 1 gr. per day for 5 days and completely eliminate dairy products.
- If there is still no response to the diet or treatment is started with severe clinical symptoms, administration of prednisolone 20 mg per day for 7 days is indicated.
- Refractory celiac disease needs to be reviewed and immunosuppressants may be prescribed (dose and duration are selected by a gastroenterologist and strictly controlled during treatment).

Complications of celiac disease

The development of ulcerative defects of various depths in the intestine, which can be manifested by intestinal bleeding and perforation of ulcers,
- intestinal obstruction,
- development of refractory (resistant to any therapy) celiac disease,
- infertility,
- manifestations of all types of hypo- and beriberi,
- bone fractures due to osteoporosis,
- high risk of developing oncological diseases of the intestine (lymphoma and cancer of the small intestine, less often cancer of the esophagus, stomach and colon),
- pregnant women have an increased risk of miscarriage, premature birth, the birth of a small child and children with pathologies of the nervous system (due to malabsorption of folic acid).

Forecast

Clinical improvement is noted already after a few days of following a special gluten-free diet, stable improvement after 3-6 months. With good adherence to the diet, the prognosis is relatively favorable, gastroenterologist supervision is required 1-2 times a year.

The prognosis worsens with a late start of treatment, the development of refractory celiac disease, the formation of complications, dynamic monitoring of the therapist and gastroenterologist, consultations of other specialists (surgeon, endocrinologist, obstetrician-gynecologist, urologist, rheumatologist, dermatologist) are required. Mortality rates in patients not following a gluten-free diet are about 10-30%. Against the background of the diet, this figure becomes less than 1%.

It should be remembered that gluten intolerance persists throughout life. Diet and treatment will only help to remove the disturbing symptoms.

In the process of mastering a new lifestyle, communities of people suffering from the same disease, sites on the Internet that specialize in the supply of gluten-free products can help you.

Therapist Petrova A.V.

Today it is a very serious problem of mankind. Unfortunately, doctors still cannot identify the exact causes of its appearance, as well as choose one hundred percent correct methods of therapy. And if in most cases an allergy occurs in response to the action of special factors that can be completely avoided, then sometimes it brings severe inconvenience. A similar situation is possible with individual intolerance to cereals (gluten). Let's talk about it. Consider what tests are taken to confirm gluten allergy, how it manifests itself in a child and adults, what are the symptoms of celiac disease.

Celiac disease is also known as celiac disease. This is a chronic autoimmune disease that affects the digestive canal of certain people with a genetic predisposition due to intolerance to the main protein of cereals - gluten. Gluten celiac disease is often a genetic disease, in which case it can affect close relatives. Sometimes celiac disease appears in patients who previously did not suspect the possibility of developing such a disorder. It can develop in children, adults, and the elderly. The onset of the disease can be triggered by pregnancy, childbirth, stress, surgery, viral infections, etc.

How does gluten allergy manifest itself, what are its symptoms?

Gluten allergy in a child - symptoms

This violation is most often recorded in children from two to three years of age. Their appetite decreases, abnormal lethargy is observed, as well as pallor of the skin. Pathological processes cause anemia, muscle hypotension and exhaustion. Children begin to lag behind in growth, they may develop osteoporosis and rickets of the skeleton. In addition, celiac disease in babies leads to the appearance, and the nails look like watch glasses.

Against the background of physical retardation, as well as significant exhaustion, the child has a large belly, which has increased due to flatulence and excessive fluid in the intestinal loops. The feces of the crumbs turn white, become shiny and plentiful. It contains a lot of neutral fat, as well as fatty acids.

With celiac disease in children, a multivitamin deficiency occurs, they have hypoproteinemia and an increased tendency to edema.

Symptoms of celiac disease in children may be similar to those of a chronic and protracted form. They are also confused with signs of chronic malnutrition.

Treatment of celiac disease in children

For small patients with celiac disease, a special diet is selected. From their diet exclude food containing wheat, as well as rye and oat flour. Limit the intake of fats and starches. Bread with such a violation is prepared only from flour made from rice, buckwheat, corn and soy. It is worth giving preference to skim milk.

Drug treatment for celiac disease in children involves the use of vitamins in a significant dosage. Babies are prescribed pancreatic enzymes, for example, 0.25 g three times a day. Methionine is also shown - 0.3 g three times a day. The drugs of choice for celiac disease in children include calcium glycerophosphate and reduced iron - both drugs at 0.15 g three times a day. The anabolic steroid Nerobol is often used - 0.1 mg per kilogram of body weight (this is the daily volume of the drug, which is divided into two doses). In addition, children are often prescribed enteroseptol - 0.1-0.2 g four times a day. Massage and therapeutic exercises will benefit.

Celiac disease in adults

Gluten allergy in adults - symptoms

Manifestations of celiac disease in adults can be different, depending on the type of disease. In the typical form of the disease, symptoms are observed from an early age, they can occur periodically. The clinical picture is the same as in children.

If the disease proceeds according to an atypical type, the patient is concerned about only a few of the above symptoms. Basically, such celiac disease makes itself felt extraintestinal manifestations. Pathological processes cause neurological symptoms, represented by depression, migraine, etc. Patients are also concerned about dermatological manifestations - herpetiform or.

Celiac disease in adults can make itself felt with dental problems - aphthous stomatitis, atrophic glossitis and enamel hypoplasia. Patients sometimes have nephropathy and joint disorders: arthritis and joint pain of unknown etiology.

With celiac disease in adults, incomprehensible changes are noticeable in the blood, represented by a decrease in cholesterol levels, an increase in alkaline phosphatase, transaminases, and albumin.

Sometimes celiac disease manifests as infertility.

In some cases, such a violation in adults does not make itself felt at all. In this case, they only occasionally experience intestinal disorders and incomprehensible rashes.

Treatment of celiac disease in adults

In general, the treatment regimen for celiac disease in adults is the same as in children. Lifelong dieting plays an extremely important role. Patients need to exclude from the diet all foods containing gluten. To correct the intestinal microflora, intestinal antiseptics are used (for example,), as well as probiotics (, Actimel, Linex) and prebiotics (for example,).
To improve digestion, pancreatic enzymes are used, for example, Pancreatin or. Medications are also taken to eliminate diarrhea (Smecta or), means to normalize the water and electrolyte balance (or calcium gluconate), as well as formulations to eliminate protein deficiency (or a mixture of amino acids). Another important role is played by the intake of vitamins and the saturation of the diet with nutritious food.

Suspected celiac disease: what tests to pass?

To confirm the diagnosis of celiac disease, the doctor may prescribe a series of laboratory tests to the patient. The main specific diagnostic method: enzyme immunoassay for the presence of specific markers of celiac disease. In addition, doctors perform endoscopy followed by a biopsy of the duodenum, which allows you to find out the condition of the mucous membranes.

Among other things, if celiac disease is suspected, a number of non-specific diagnostic methods are carried out, including ultrasound of the digestive organs and bones. Patients are shown a coprogram, a study of feces for occult blood, a biochemical and clinical blood test.

Celiac disease, unfortunately, is not treatable. This violation requires adherence to a diet throughout life. The organization of proper and balanced nutrition helps to forget about health problems. And drugs are used only for symptomatic treatment.

Alternative treatment

Alternative treatments do nothing to help with celiac disease. However, they can be used as a means of symptomatic correction.

So celiac disease quite often causes frequent stools. You can quickly deal with such a problem with the help of. Grind it well to a powder state. Pour a pinch of such a substance with one and a half cups of boiling water and boil over a fire of minimum power for ten minutes. The amount of liquid during this boiling should be reduced to one glass. Take the finished medicine in a tablespoon three times a day.

You can also brew half a tablespoon of crushed oak bark with a glass of boiling water. Boil for half an hour, then cool for ten minutes. Take a couple of tablespoons three times a day.

You can also cope with diarrhea with the help of an infusion based on bird cherry fruits. Brew a tablespoon of such raw materials with a glass of boiling water. Infuse the product wrapped, until cool, then strain. Take the finished medicine for a quarter-half glass twice or thrice a day.

Even traditional medicine experts advise treating diarrhea with celiac disease with the help of. You can eat porridge from it, boiled in water, and take rice water. Salting or sweetening such products is not recommended.

You can also cope with the problem of diarrhea with the help of the usual one. Pour a handful of crushed raw materials with a liter of water. Bring this remedy to a boil and boil under the lid for ten minutes. Next, insist the medicine in a thermos or well wrapped for half an hour. Strain the finished composition and drink throughout the day in small sips.

By following a diet, you may well be able to prevent the unpleasant symptoms of celiac disease. But it is impossible to completely get rid of such a violation.

Ekaterina, www.site
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