Genetic tests in celiac disease are becoming increasingly important in diagnostics. It turns out that people suffering from celiac disease in 90-95 percent. cases have a specific genetic makeup. Genetic tests make it possible to shorten the diagnosis of the disease, thanks to which the patient can undergo treatment faster. In addition, they are much more comfortable than intestinal biopsy, which is especially important if the diagnosis covers a child.

By performinggenetic testing for celiac diseaseyou can basically 100 percent. certainly to exclude the risk of developing the disease or to confirm its presence with high probability.

Already a few years ago, genetic testing for celiac disease was included in the list of tests recommended by the European Association of Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN). Because, as already mentioned, celiac disease is a genetically determined disease. Genes from the HLA group, and more specifically the DQ2 and DQ8 genes, are responsible for its development. Interestingly, they also have about 30 percent. he althy people.

Recommendations prepared by ESPGHAN regarding the diagnosis of celiac disease allow in some cases the abandonment of small intestine biopsy, another examination method used in the diagnosis of celiac disease.

DNA testing for celiac disease is very simple from the patient's point of view. The genetic material that is needed for it is obtained from a cheek swab. The patient can take such a smear on their own or go to a medical facility and use the help of the staff.

Genetic research in celiac disease - recommendations

Recommendations made by ESPGAN suggest that genetic testing for celiac disease should be performed in 3 groups of patients.

The first group consists of people with clinical symptoms of celiac disease and a positive serological test result, i.e. one that showed the presence of antibodies characteristic for celiac disease. In these patients, a small intestine biopsy may be omitted if genetic testing reveals the presence of the HLA-DQ2 or DQ8 genes.

The second group of patients for whom DNA testing is worthwhile are patients with the so-called risk group, i.e. people suffering from type I diabetes or thyroid diseases.

The third group are the closest relatives of people suffering from celiac disease. In patients of the last twogroups that do not have symptoms characteristic of celiac disease, the diagnosis begins with genetic tests. If their result is negative, the risk of developing celiac disease can be excluded, but a positive result is an indication for further diagnosis.

Celiac disease - who is genetic testing for?

Genetic tests for celiac disease should be performed primarily by people who suffer from digestive system ailments characteristic of this disease, so:

  • stomach pains
  • flatulence
  • diarrhea
  • nausea
  • vomiting
  • recurrent mouth ulcers
  • trouble with tooth enamel

DNA testing for celiac disease is also the best option for less common symptoms.

Celiac disease is a disease that often occurs along with other medical conditions. And so, people diagnosed with celiac disease should be tested:

  • Down syndrome
  • Turner syndrome
  • type I diabetes
  • Crohn's disease

Thanks to the examination, it is also possible to determine the risk of developing celiac disease in the family members of the patient.

Finally, genetic testing should be performed by people whose serological tests and chorionic villus sampling are inconclusive or may be false negative.

The genetic test will tell you if you need a gluten-free diet

Celiac disease is a disease of persistent gluten intolerance, or the protein found in certain grains, including wheat, rye, barley, and oats. Gluten is a substance that does not pose a threat to he althy people, but it is very toxic for people with celiac disease.

After eating a product containing gluten, the patient's immune system begins to produce antibodies that destroy the intestinal villi - tiny structures that line the mucosa of the small intestine and increase the surface area of ​​nutrient absorption. But how does the patient know if a gluten-free diet is right for them? The answer to this question will be provided by genetic tests.

Because more than 90 percent patients with celiac disease have characteristic changes in the genetic material, so by detecting them in a given person, it is very likely that they have celiac disease, and therefore they should follow a gluten-free diet. Celiac disease cannot be cured, nor can it be outgrown. However, you can alleviate its symptoms by completely eliminating gluten-containing foods from your daily menu. The sooner a patient starts following a gluten-free diet, the sooner they will get rid of the symptoms of the disease. ThanksIn genetic tests, celiac disease is much easier to diagnose today than even a dozen or so years ago. And a quick and accurate diagnosis is a chance for the patient for a more comfortable life - without bloating, diarrhea and constant abdominal pain.

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Research