28 diseases - Celiac disease

DNA test for genetic predisposition to celiac disease

Celiac disease is a disease that affects mucous membrane of small intestine and is associated with gluten (cellulose) intolerance and some other proteins of similar structure that make up wheat, barley and rye. The prevalence of this anomaly varies between 0.3 and 1% of population.

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Celiac disease

Earlier it was believed that celiac disease is a very rare pathology of the gastrointestinal tract, manifested at an early age right after intake of grain complementary food - cereals, bread, baked goods. However, recent studies have shown that only a very small percentage of all cases of celiac disease give classical symptomatology - other patients may not know about the disease for years because of an atypical clinical picture or asymptomatic course. To describe the structure of morbidity, experts of the World Organization of Gastroenterologists compare it with an iceberg, where its top is the number of diagnoses established, where a large underwater part is undiagnosed cases.

Women are twice times frequent suffer from celiac disease, while pregnancy often can be named as a provoking factor: previously hidden or subtle symptoms intensify, creating many problems for a woman and obstetrician-gynecologists.

The reason of developing of celiac disease

Gluten does not pose any danger for a healthy person; however, for a patient with celiac disease, cellulose is an aggressive agent that damages mucosa of small intestinal. The mechanism of damage is associated with an abnormal response of the immune system: ingestion of gluten into the body causes the release of antibodies into the bloodstream against the cells of the small intestine, which are perceived by the body as foreign agents that require destruction. As a result, epithelium villi of a small intestine are damaged. In the classical version of disease, digestive disorders and malabsorption syndrome develop - they are presented by inadequate absorption of nutrients from an intestinal paries.

Celiac disease is often combined with certain genetically determined diseases:

  1. 1Type 1 diabetes mellitus;
  2. 2Down's syndrome;
  3. 3Hashimoto thyroiditis;
  1. 4Turner syndrome and Williams syndrome;
  2. 5Autoimmune hepatitis.

In addition, risk group includes those whose relatives suffer from celiac disease.

Genetic predisposition to celiac disease

Inherited predisposition — is a reliable risk factor for celiac disease. This is proved by many years of observations and research. Risk of developing disease in a child whose twin already suffers from celiac disease is 70%; Risk for people who have first-line relatives (parents, siblings) is up to 10%.

The most known genetic markers of this disease are HLA-DQ2 or HLA-DQ8, which encode a specific type of leukocyte antigens. However, the discovery of these genes alone is not an accurate evidence of the disease, but only characterizes high risk of celiac disease. Genotyping is an important component of complex diagnosis of celiac disease.

Celiac disease: symptoms and variants and flow

The disease can manifest itself in different ways, in connection with which conditionally there are distinguished 3 forms of celiac disease:

Classical celiac disease

a serious disease, manifested primarily in the symptoms of derangement of digestion. The first signs of derangement occur even in childhood and manifest on the background of administration of grain complementary foods. The main symptom is frequent frothy stool with a fetid odor. Attempts to normalize digestion remain unsuccessful: neither antibiotics, nor enzymes, nor absorbents effect. If no appropriate treatment with a diet correction is prescribed, the child becomes sluggish, anemic, loses weight.

Progression of classical celiac disease in children leads to a sequela of common symptoms - as a result of malabsorption, dystrophy develops. Appearance of such a child is quite typical: a very big stomach, red mucous membranes, lethargic movements and lack of interest to life, fragility of bones, peripheral swelling, brittle nails and hair, dry flaky skin.

The longtime course of disease seriously inhibits growth and organic evolution. Such serious condition is associated with unsatisfactory absorption of carbohydrates, fats, vitamins, microelements and metabolic disorders.

Atypical celiac disease

often causes a prolonged medical examination, moreover, health problems can occur only in adulthood.

The clinical picture consists of one or more symptoms:
  • Atony and fatigue as a result of anemia.

  • Intermittent pain, abdominal distention.

  • Herpetiform dermatitis with characteristic blistering rash.

  • Osteoporosis without signs of hormonal imbalance.

  • Peripheral neuropathy.

  • Infertility, repeated misbirths and dead birth.

When examining patients with anemia, there is found out deficiency of folic acid, vitamin B12 or ferrum. Attempts to fill the deficiency of these substances do not lead to significant improvement.

Patients with complaints of frequent discomfort and abdominal pain after the examination are often exposed to the diagnosis of irritable bowel syndrome. In this case, therapeutic and dietary efforts do not significantly improve state of health.

Patients with infertility make attempts to examine and treat gynecologists, but resultless. In this case, the only way to normalize fertility is to stop supplying gluten with food.

Asymptomatic celiac disease

either does not cause patients inconvenience, or complaints are very poorly expressed. The disease can be detected accidentally or in the process of examination due to a hereditary predisposition to celiac disease.

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If celiac disease is suspected, the diagnosis should include the following items:


immune (serological) test;


genotyping assay


Fibrogastroduodenoscopy with duodenum biopsy.

Serological analysis for celiac disease is used for detection a whole complex of antibodies. The specificity of each of them is not absolute, that is, a positive serological test can not be the basis for confirming the diagnosis, but indicates necessity for further examination.

Genotyping is detection of genetic markers of disease. A positive DNA test in combination with a serological test is a good reason for making endoscopy and biopsy.

Biopsy is taken from different parts of duodenum - an initial section of a small intestine, following immediately after the stomach. A flexible endoscope is inserted through the mouth into the esophagus, then the gaster and finally the duodenum. The mucous membrane is examined for inflammation and changes in relief of the inner shell; the sections of the mucosa are taken for microscopic examination with the help of special manipulators.

Histological examination reveals infiltration of mucous membrane with lymphocytes and atrophic changes in the villus. Only the detection of typical changes allows to make the final diagnosis of celiac disease.

Celiac disease: treatment and prognosis

The basis of celiac disease treatment in adults and children, regardless of age, is the gluten-free diet (GFD), which must be adhered to throughout life without exception. Any deviation from GFD results in a worsening of condition and progression of atrophic processes in the intestinal wall.

The gluten-free diet completely excludes wheat, barley and rye. Oats in most cases is included in the diet (only 5% of special cases exclude this grain also), but it must carefully monitored that it to be a clean oats without any impurities. Traces of gluten grains can fall into oatmeal due to technological reasons, for example, when using common containers for kneading and baking. In this regard, you should only purchase products with special labeling "Does not contain gluten." Rice, especially wholegrain, and corn can be eaten without any hindrance.

Moving to GFD quickly eliminates most of symptoms — an average at 2 weeks. Even if the disease has been proceeding asymptomatically and celiac disease has been detected while screening, the rejection of gluten in many patients improves overall well-being.

According to the recommendations of the World Organization of Gastroenterologists, the basic points of correction of whole lifestyle of celiac patients are as follows:

  1. 1

    Strict gluten-free diet.

  2. 2

    Consultation with a dietician specialized in celiac disease.

  3. 3

    Examination of folic acid and ferrum parameters, if their adjustment is necessary.

  1. 4

    Study of bone density (according to the recommendation of an attending physician) and, if necessary, intake of calcium and vitamin D.

  2. 5

    Conducting of genetic and serological analysis from relatives.

  3. 6

    Communication with patients with celiac disease and their relatives: possibly both internally and online at specialized sites and forums.

According to specialists' outlook, almost all cases of non-treatable disease are associated with nutrition negligence. It is important to remember that many products, especially semi-finished products, can contain traces of dangerous for such patients grains. Ingestion of such products as food resumes the process of destruction of the intestinal mucosa and, as a consequence, worsens the course of disease.

Importance of diagnosis and treatment of celiac disease

In case if gluten intolerance does not give any symptoms or if they are poorly expressed, a person for many years may not be aware of presence of the disease.

Nevertheless, according to recommendations of the World Organization of Gastroenterologists, celiac disease should be actively detected in persons with established genetic predisposition, and in case of an appropriate diagnosis, disease should be treated according to all rules, despite the absence of complaints.

This approach is justified by an increased risk of developing of a number of serious diseases in patients with celiac disease who continue receiving gluten:

  • malignant epithelial tumors (cancer);
  • malignant lymphadenosis;
  • neoplasm of small intestine;
  • adenocarcinoma of large intestine;
  • oropharyngeal tumors;
  • infertility of unknown origin;
  • osteoporosis with a tendency to fracture;
  • autoimmune diseases;
  • growth rate reduction in children and adolescents.


Prevention is not aimed at preventing the disease itself, but at eliminating its consequences. Taking into account expressed hereditary conditionality of celiac disease, it is important to diagnose anomaly in time and immediately start treatment that is based on a strict gluten-free diet.

This recommendation is especially important for people at risk, especially if there are relatives with diagnosed celiac disease. However, it should be remembered that the presence of such relatives is not at all an obligatory condition of disease.

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DNA test is a unique method for determining genetic predisposition to celiac disease. The research provides important information about the need for further diagnosis and will help to make an individual plan for correction of a lifestyle.

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