Celiac disease (wheat hypersensitivity) genetic test
With the help of celiac disease genetic testing, the predisposition to wheat hypersensitivity can be detected quickly and without any inconvenience.
What is celiac disease?
Celiac disease, or wheat hypersensitivity, is a whole-body, autoimmune disease caused by gluten in the diet of genetically susceptible people. Consumption of gluten triggers an immune response that results in the formation of autoantibodies that destroy the small intestinal mucosa and cause malabsorption. The developed disease cannot be cured, but in addition to a lifelong gluten-free diet, the deterioration of intestinal villi can also be controlled and reversed.
What is in the background of celiac disease?
In addition to genetic factors, environmental factors and other genetic factors play a role in the development of wheat hypersensitivity.
However, in the case of celiac patients, most of them have two specific genotypes (HLA-DQ2 and HLA DQ8) of immune human leukocyte antigen (HLA), the presence of which is also detected by genetic testing. This antigen is one of the preconditions of the development of what hypersensitivity, because in their absence, celiac disease certainly does not develop.
What are the symptoms?
As the disease results in the destruction of intestinal villi due to the immune response, and the absorption of nutrients is thereby hindered, it is accompanied by various gastrointestinal symptoms. The most common symptoms are prolonged or recurrent diarrhoea or constipation, heavy fatty stools and bloating. Absorption problems can lead to the development of secondary symptoms over time: abnormal weight loss, lactose intolerance, bone problems, aphthous mouth, gum disorders, blood clotting disorders, iron deficiency anaemia, psychiatric disorders. Insulin-dependent diabetes mellitus and thyroid dysfunction are also common, and it can cause infertility problems in women.
Failure to follow a gluten-free diet can also result in damage to the intestinal tract, causing tumours.
How can it be diagnosed?
It is important not to self-diagnose or start a gluten-free diet for similar gastrointestinal symptoms, as other diseases can also cause complaints. If the above-mentioned symptoms persist, be sure to visit a gastroenterology clinic, where your doctor will recommend tests appropriate to your complaints and medical history to make a diagnosis.
If celiac disease is suspected, the doctor will order a serological test on a blood sample that shows the presence of antibodies characteristic of gluten sensitivity in the blood. In case of a positive result, a small bowel biopsy is performed, which shows a decrease in intestinal villi. The latter test can be inconvenient.
Genetic testing can be used to identify or rule out suspicion of wheat hypersensitivity without inconvenience. If the subject does not have gene variants specific to celiac patients, they are unlikely to develop the disease, thus avoiding further testing. If the result of the genetic test is positive and accompanied by symptoms, further tests are required to confirm wheat hypersensitivity.
Genetic testing may also be helpful in assessing the risk of gluten sensitivity in a patient’s family members before symptoms appear.
In all cases, consult a gastroenterologist with the results of the test.
How can celiac disease be treated?
Celiac disease can be kept under control with a strict gluten-free diet, the symptoms disappear, after a few weeks the small intestine villi begins to regenerate, and approx. after 3-6 months, the abnormal antibodies disappear.
Under no circumstances should we start dieting on our own, after the diagnosis, we ask for the help of a dietitian to create a personalized diet.
To whom is genetic testing recommended?
Genetic testing for celiac disease is recommended in the following cases:
- to examine hereditary predisposition if there is a celiac patient in direct line in the family
- to support the diagnosis of the gastrointestinal complaints listed above, prior to or in parallel with other celiac examinations
- for diseases often associated with wheat hypersensitivity (autoimmune diseases, type I diabetes, Down’s syndrome)
- or if we want to know if we have a predisposition to gluten sensitivity.
How is sampling performed?
Genetic testing can be performed on a sample taken from the oral mucosa as well as blood.
Sampling from the oral mucosa does not cause any discomfort, it is completely painless, so it can be used in case of children as well. For sampling, a sampling device is provided to remove mucosal epithelial cells detached from the inner surface of the oral cavity with the help of a small sampling brush.
The test can be performed from a blood sample, even at the same time as other tests.
How do I prepare for the test?
Do not eat and drink and avoid chewing a gum and smoking 2 hours before the sampling of the oral mucosa.
Having an empty stomach is not required for the blood count.
When is the result expected?
On the 10th working day following the test.