Test for celiac disease. Celiac disease - the current state of the problem What tests need to be taken to detect celiac disease

Today it is a very serious problem for humanity. Unfortunately, doctors cannot identify the exact causes of its occurrence, nor can they choose one hundred percent correct treatment methods. And if in most cases an allergy occurs in response to special factors that can be completely avoided, sometimes it brings severe inconvenience. A similar situation is possible with individual intolerance to grains (gluten). Let's talk about it. Let's consider what tests are taken to confirm an allergy to gluten, how it manifests itself in a child and adults, and what are the symptoms of celiac disease.

Celiac disease is also known as celiac disease. It is a chronic autoimmune disease that affects the digestive tract of certain people with a genetic predisposition due to intolerance to the main grain protein, gluten. Celiac disease is often a genetic disease, in which case it may affect close relatives. Sometimes celiac disease appears in patients who previously had no idea about 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, surgical interventions, viral infections, etc.

How does gluten allergy manifest, what are its symptoms?

Gluten allergy in a child - symptoms

This disorder is most often recorded in children from two to three years of age. Their appetite decreases, they experience abnormal lethargy, as well as pale skin. Pathological processes cause anemia, muscle hypotension and exhaustion. Children begin to lag in growth, they may develop osteoporosis and rachitic skeletal changes. In addition, celiac disease in children leads to the appearance of nails, and the nails look like watch glass.

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

With celiac disease, children experience multivitamin deficiency, they experience hypoproteinemia and an increased tendency to edema.

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

Treatment of celiac disease in children

Young patients with celiac disease are given a special diet. Food containing wheat, as well as rye and oatmeal, is excluded from their diet. The consumption of fats and starch is limited. Bread with this disorder 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 significant dosages. Children are prescribed pancreatic enzymes, for example, 0.25 g three times a day. Methionine intake is also indicated - 0.3 g three times a day. The drugs of choice for celiac disease in children include calcium glycerophosphate and reduced iron - both drugs 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 amount of medication, 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 be beneficial.

Celiac disease in adults

Gluten allergy in adults - symptoms

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

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

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

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

Sometimes celiac disease results in infertility.

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

Treatment of celiac disease in adults

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

Celiac disease is suspected: what tests should I take?

To confirm the diagnosis of celiac disease, the doctor may prescribe a number of laboratory tests for the patient. The main specific diagnostic method: enzyme immunoassay for the presence of special markers of celiac disease. In addition, doctors perform an endoscopy followed by a biopsy of areas of the duodenum, which makes it possible to determine the condition of the mucous membranes.

Among other things, if celiac disease is suspected, a number of nonspecific diagnostic methods are performed, including ultrasound of the digestive organs and bones. Patients are shown a coprogram, a stool test for occult blood, and a biochemical and clinical blood test.

Celiac disease, unfortunately, cannot be treated. This disorder requires a lifelong diet. Organizing a proper and balanced diet helps you forget about health problems. And medications are used only for symptomatic treatment.

Traditional treatment

Alternative treatment methods do not help cope with celiac disease. However, they can be used as a means of symptomatic correction.

So celiac disease quite often becomes the cause of frequent bowel movements. You can quickly cope with this problem with the help. Grind it thoroughly until it becomes a powder. Pour a pinch of this substance into one and a half glasses of boiling water and simmer over low heat for ten minutes. The amount of liquid during this boiling should be reduced to one glass. Take the finished medicine one 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 this raw material with a glass of boiling water. Leave the product covered until it cools, then strain. Take the finished medicine, a quarter to a half glass, two or three times a day.

Traditional medicine specialists also advise treating diarrhea with celiac disease using. You can eat porridge from it, boiled in water, and take rice water. It is not recommended to add salt or sweeten these products.

You can also cope with the problem of diarrhea using the usual one. Fill a handful of crushed raw materials with a liter of water. Bring this mixture to a boil and simmer covered for ten minutes. Next, infuse the medicine in a thermos or well wrapped for half an hour. Strain the finished mixture and drink in small sips throughout the day.

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

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

Gluten (gluten) is a protein found in cereal plants (rye, wheat, barley, and 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 impairs the absorption of nutrients in the intestine.

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

Causes of celiac disease

The cause of 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 can be 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.

Carriage of genes does not mean a disease; it develops only in some carriers, and this often requires certain additional factors. A triggering factor can be pregnancy, worsening of an autoimmune disease, an acute viral infection, a stressful situation, or surgery on the intestines.

In children, the disease most often manifests itself with the introduction of complementary foods with porridge, but can appear later, 5-6 months after the introduction of complementary foods or the start of artificial feeding with gluten-containing mixtures, sometimes after suffering from an acute respiratory viral infection or intestinal infection. In some cases, the first manifestations of the disease appear at the age of 2-3 or 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 impaired 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 does not meet standards,
- slow growth,
- rachiocampsis,
- frequent regurgitation, vomiting,
- irritability, moodiness, episodes of aggression and apathy, lethargy,
- paroxysmal pain in the abdomen of a dull nature,
- change in the nature of the stool (its quantity increases, it becomes foamy, mushy, shiny in appearance and has a sharply unpleasant odor),
- chronic or intermittent diarrhea,
- swelling,
- delay in teething, early caries,
- intolerance to cow's milk,
- rickets,
- secondary immunodeficiency (particular susceptibility to infectious diseases).

The listed symptoms can appear either individually or in combination. Further, girls may have problems with the development of menstrual function, the likelihood of developing polycystic ovary syndrome increases, and boys may experience 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 stool, less often a copious admixture of blood caused by intestinal ulceration with rupture of a vessel
- chronic anemia, less often thrombocytopenia,
- coagulopathy (clotting disorder due to impaired absorption of vitamin K),
- hypotension,
- bloating and rumbling (flatulence),
- cramping pain in the umbilical area,
- 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 (liver inflammation) that has developed without an objective reason,
- migraine attacks, drowsiness, in some cases convulsive seizures, depression, numbness of the arms and legs, panic attacks may be observed,

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

Diagnosis of celiac disease

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

Start with a routine examination:

General blood test (the CBC may show a decrease in hemoglobin, a decrease in the size of red blood cells), in a detailed analysis there is a decrease in T and B lymphocytes (protective cells responsible for different types of immunity)
- general urinalysis (UCA)
- biochemical blood test (with celiac disease there may be a decrease in cholesterol and protein, impaired glucose tolerance, increased ALT, AST) and an analysis of vitamin B12 (its amount is reduced)
- coagulogram (blood clotting indicators)
- scatological 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 stool: dysbiosis of varying severity, decrease in the number of protective strains of Escherichia coli, growth of hemolytic flora, lactonegative enterobacteria, Proteus
- Ultrasound of internal organs
- FGDS

Densitometry (measuring bone density) may be prescribed.

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

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

High titers (10 times the norm or more) indicate a high probability of celiac disease.

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

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

These genetic markers are necessary but not sufficient for the development of celiac disease and occur in approximately 30% of the population. Inheriting 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 sensitivity to gliadin increases, thereby activating the immune system and triggering an auto-aggressive process.

The presence of genetic markers for celiac disease determines a high probability of the disease; their absence practically eliminates the risk of the disease.

Genetic testing 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 in whom this diagnosis has been 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 conduct genetic typing for 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 of all tests allow a diagnosis of celiac disease and stage III is not required. If the result is questionable, a transition to the next stage is indicated.

Stage III – instrumental: biopsy (taking a piece of mucous membrane for microscopic examination) to identify mucosal atrophy and characteristic morphological signs.

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 for at least 1 year) with dynamic observation. If the clinical effect is good, discontinuation of the diet is not indicated.

Celiac disease treatment

Diet

The main treatment for celiac disease is a lifelong strict gluten-free diet. Calorie intake should be twice that of 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 can make the process easier:

Prepare 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 cook about your problem, ask about the composition of the dish. Since we are not talking about whims, but about the state of health, they will certainly meet you halfway.
- Buy products from reputable brands and carefully read the labels of products, some have the indication “gluten free” and these are safe products, gluten can be found in products including modified starch, dextrin, hydrolyzed vegetable protein, sauces and seasonings.
- Now many supermarkets have special food sections for people with celiac disease and diabetes, and you can also try ordering groceries online.
- If you are cooking for a family, then you should have separate utensils for preparing and eating food; before preparing food, thoroughly wipe work surfaces to prevent contamination with wheat flour and other products prohibited for you; store your food separately in a closed container.
- The consumption of alcoholic beverages is allowed in small quantities; rum, tequila, wine, cognac, and gin are allowed.
- Some dosage forms contain gluten, so always warn your doctor of any specialty about your disease (mezim, festal, complivit, allohol, the liquid form of novopassit and others contain gluten in the shell of the drugs).
- Gluten may be found in cosmetics such as lipstick.

Excluded for celiac disease: wheat (including semolina and couscous), rye, barley, oats, bread of all kinds, pasta and instant noodles, confectionery (cakes, gingerbreads, waffles, cookies, dryers), ice cream, some yoghurts, many cheeses, sausages, canned food, sauces, ketchup, vinegar, soy sauce, mayonnaise, filled candies, caramel, some types of chocolate, corn flakes, instant coffee, tea and cocoa, concentrated soups and bouillon cubes, crab sticks, margarine, breaded dishes , all products with dyes and preservatives, kvass, wheat and barley beer, wheat vodka, whiskey.

Products containing more than 1 mg of gluten per 100 g of product are prohibited.

Allowed for celiac disease: rice, millet, buckwheat porridge (before cooking, the cereal must be carefully sorted and washed, as it may become 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 infusion, soups with weak meat and fish broths.

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

Drug 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 these drugs is determined individually).
- Vitamin therapy(vitamins B1 and B6 subcutaneously, nicotinic acid IM or subcutaneously, dosages are individual)
- Treatment of excess bacterial contamination(colonization by microbes) of the intestines (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 dysbiosis(Bifikol 3-5 doses 2 times a day for 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 of depression(treatment is selected individually).
- If there is no positive response to a gluten-free diet within 3 months, then a course of metronidazole (Trichopol) 1 g should be administered. 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 requires a revision of treatment and the possible prescription of immunosuppressants (the dose and duration are selected by a gastroenterologist and strictly controlled during the treatment process).

Complications of celiac disease

The development of ulcerative defects of varying depth in the intestine, which can manifest as 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 vitamin deficiency,
- bone fractures due to osteoporosis,
- high risk of developing intestinal cancer (lymphoma and small intestine cancer, less often cancer of the esophagus, stomach and colon),
- pregnant women have an increased risk of miscarriage, premature birth, birth of a low birth weight baby and children with pathologies of the nervous system (due to impaired absorption of folic acid).

Forecast

Clinical improvement is noted after just a few days of following a special gluten-free diet, with persistent improvement after 3-6 months. With good adherence to the diet, the prognosis is relatively favorable; observation by a gastroenterologist 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 observation of a therapist and gastroenterologist, and consultations with other specialists (surgeon, endocrinologist, obstetrician-gynecologist, urologist, rheumatologist, dermatologist) are required. Mortality rates in patients not following a gluten-free diet are around 10-30%. Against the background of a diet, this figure becomes less than 1%.

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

In the process of mastering a new lifestyle, societies of people suffering from the same disease and Internet sites specializing in the supply of gluten-free products can help you.

General practitioner Petrova A.V.

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

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

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

A clear mechanism for the development of gluten intolerance has not been identified, but researchers have concluded that there is a genetic predisposition to the development of this disease. There is a high risk that direct relatives will pass this disease on 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 predisposing 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 with gluten intolerance is a stressful situation, rheumatic diseases, or acute viral diseases.

So, the “Gluten Metabolism” panel includes the analysis of seven polymorphisms. This profile examines immune regulation genes and identifies the risk of developing gluten intolerance.

Indications for research:

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

The study includes analysis 7 polymorphisms.

Autoimmune diseases IL22

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

Based on the results of the study, you receive a conclusion from a geneticist.

http://www.naturalnews.com/033502_celiac_disease_gulten_intolerance.html

Celiac Disease and Gluten Intolerance Testing- Accurate or Misleading?

September 05, 2011 by: Julie McGinnis

Celiac disease and gluten intolerance:
How much can you trust research results?
(abbreviated translation)

Blood tests.

A common blood test that doctors order is the Celiac Panel. This test establishes indicators of the immune response to gluten, as well as indicators of damage to intestinal tissue.
The panel consists of the following indicators:
Anti-gliadin antibodies (AGA) for IgA and IgG (IgA and IgG are involved in the control of the immune system);
Endomysial autoantigen (EMA) - IgA;
Antibodies to tissue transglutaminase (tTG) - IgA;
Total IgA level.

Dr. Thomas O'Brien (a specialist in the field of gluten intolerance) states that this test is a false negative in 7 out of 10 negative cases. False-negative cases occur partly due to the doctor's interpretation of the results, as well as due to the patient's condition at the time the blood was taken for analysis. Doctors often interpret the result as negative if the tissue damage test (tTG and EMA) is negative, even if the immune response test is positive. Meanwhile, an analysis for tissue damage will give a positive answer only if there is serious damage or tissue atrophy, i.e. something that can be found in the final stages of celiac disease. If there is only partial atrophy, the accuracy limit of this test drops to 27-30%.

Another problem with this panel is that it does not take into account IgA deficiency, which is 10-15 times more common among patients with celiac disease than the average population. In such patients, of course, the IgA test will be negative. Additionally, this panel only looks at one part of gluten (alpha-gliadin), and there are up to 60 parts of gluten that can cause problems. If a patient has an intolerance to one of the 50+ proteins found in gluten other than alpha-gliadin, the test result will still be negative. Dr. Vicki Peterson, author of The Gluten Effect, estimates that 50% of patients are not diagnosed due to false negative test results. As we are gradually learning, the degree of gluten intolerance can range from mild to severe, and not every individual case of gluten sensitivity will be tested positive by a blood test.

Celiac vs. Gluten sensitivity.

Dr. Alessio Fasano, director of the Celiac Disease Research Center at the University of Maryland, recommends a blood test for celiac disease; however, if the result is negative, he recommends a traditional wheat allergy test (via IgE testing). If that test is also negative, he suggests his patients try a gluten-free diet for 2 to 4 weeks and monitor symptoms. If they have become weaker, then Dr. Fassano considers this a positive result for gluten sensitivity de facto, and from his point of view, this is currently the best way to test for gluten sensitivity, and a low-tech one at that.

Dr. Fasano recently completed a study confirming that gluten sensitivity exists in the absence of celiac disease. The study confirmed that gluten sensitivity is different from celiac disease both at the molecular level and in the response of the immune system. Fasano and his co-authors showed that gluten sensitivity and celiac disease are diseases of a spectrum of gluten-related disorders. “Consider the gluten intake of patients on the spectrum. On one end there will be those who cannot tolerate even an ounce of gluten. On the other side are those who are lucky and they consume pizza, beer, pasta, and cookies without any harm to their health. In the middle is a gray gluten sensitivity bar. This is an area that we are closely exploring to find ways to diagnose and treat patients with gluten sensitivity.”

Genetic component.

As an autoimmune disease, celiac disease is the result of an interaction between genes and an external factor (gluten). The presence of two genes, HLA DQ2 and/or HLA DQ8, is an absolutely necessary condition for the development of celiac disease. Since a third of the population has these genes, their presence is not sufficient for a person to develop celiac disease, rather it can be said that he has a genetic predisposition to this disease. Dr. Kenneth Fine's research at Enterolab demonstrates the existence of several more genes associated with the development of celiac disease, gluten sensitivity and other diseases associated with a reaction to gluten.

Stool and saliva examinations.

It is possible to test for gluten sensitivity using stool and saliva tests. These tests can be ordered online and done at home. Enterolab's unique study includes tests not only for sensitivity to gluten, but also for antigens to other components included in the diet. The Enterolab method is based on the analysis of feces, and not blood as an indicative substrate of the body, because the immunological reaction to gluten proteins occurs in the intestines, and not in the blood. Saliva testing determines the presence of genes associated with celiac disease or sensitivity. To do this, you need to make a scraping from the inside of the cheek and send it to the laboratory.

Biopsy of the small intestine.

This study requires more painful intervention. I don't recommend it because... Less painful tests are available today. A recent study by Dr. Benjamin Lebwohl, a gastroenterologist at the Celiac Research Center at Columbia University Medical Center in New York, found that 65% of patients undergoing biopsies did not have the recommended number of samples (4) to diagnose celiac disease.

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

Synonyms Russian

Genetic diagnosis of celiac disease.

English synonyms

Diagnosisofceliacdisease (HLAtypingDQ2DQ8).

What biomaterial can be used for research?

Venous blood.

How to properly prepare for research?

• Do not smoke for 30 minutes before the test.

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 with intolerance to the main protein of cereals (gluten). Celiac disease causes chronic inflammation of the mucous membrane (SM) of the small intestine, leading to its atrophy, malabsorption, and there is the possibility of complete restoration of organ function in response to cessation of contact with gluten (gluten-free diet).

HLA stands for "human leukocyte antigen", which are certain molecules 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 determined by 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.

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 suffer from celiac disease and there is no need to subject him to further examination.

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

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 diagnostic method, 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 desired (due to the inconvenience or intolerance of the procedure).

What is the research used for?

• To determine predisposition to celiac disease.

When is the study scheduled?

• In doubtful cases, when establishing a diagnosis of celiac disease (the detection of HLA haplotypes DQ2, DQ8 makes the diagnosis more likely, and their absence allows the suspicion to be removed).

What do the results mean?

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

The presence or absence of susceptibility alleles 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.