Test for celiac disease - genetic

Genetic testing for susceptibility to celiac disease can predict this often strange and vaguely manifested, but hereditary disorder based on hereditary dispositions. Thanks to this, not only treatment, but also nutritional measures are directed effectively. We recommend that you undergo an affordable and painless examination, even if you do not have any of the specific symptoms. Celiac disease is always hereditary, which means that the risk does not only apply to you, but also to your relatives. However, it may not manifest itself in other family members. Not everyone who carries risk alleles may develop celiac disease (1).

Why get a genetic test for celiac disease

1. Untreated celiac disease can lead to the development of, for example, type 1 diabetes, multiple sclerosis, infertility and bowel cancer (2). By taking a simple test, you will gain an overview of your health and you can prevent the risk of developing other diseases.
2. You can undergo genetic testing for celiac disease, even if you have already eliminated gluten from your diet. However, the blood test can be falsely negative if you decide to stop gluten before taking it.
3. Celiac disease is a genetic autoimmune disease, which means it runs in families. If you have celiac disease, there is a 1 in 10 chance that another family member will develop it (3). A careful genome analysis will help you uncover the genetic load in your family history.
4. As part of the celiac disease test, we examine the human leukocyte antigen (HLA – Human Leukocyte Antigen) genes, which are estimated to be involved in the genetic susceptibility to celiac disease in up to 40% of cases (4).
5. You will receive the test result within 15 working days.

What´s measured

About celiac disease

Celiac disease is a systemic disease of genetically predisposed individuals, causing permanent intolerance to gluten, which is found in cereals including wheat, rye and barley. The cause of the disease is an abnormal reaction of the immune system to gluten components, which causes damage to the small intestine; specifically villi lining the small intestine and supporting the absorption of nutrients. When the villi are damaged, nutrients cannot be absorbed properly (11).

It has been proven that genes of the main histocompatibility complex (MHC II), which in humans is called HLA (Human Leukocyte Antigen), have an influence on genetic predisposition. The latter is involved in the genetic susceptibility to celiac disease in up to 40% of cases. However, the presence of risk genes does not necessarily mean that celiac disease will develop. About 25 to 30% of the population have HLA alleles, but only 1% actually develop the disease.

A non-invasive and painless test for celiac disease that requires only a blood sample, examines specific genetic alleles DQA1*02, DQA1*03, DQA1*05, DQB1*02, DQB1*0302, DRB1*04 and detects serological equivalents of HLA-DQ2 (DQ2 .5, DQ2.2) and HLA-DQ8 (12). It will reveal not only the genetic background of celiac disease, but also the transmission of the disease within the family, which is especially useful if you already have symptoms of celiac disease. Given that most people with confirmed celiac disease (99%) have one of the HLA-DQ2/DQ8 alleles, the test is particularly suitable for ruling out a predisposition to celiac disease. A negative test result means that you are very unlikely to develop celiac disease in your lifetime (13).

When is it appropriate to take a celiac disease test?

If you repeatedly experience:

• bloating,
• chronic diarrhea,
• constipation,
• flatulence,
• lactose intolerance (often lactose intolerance or poor absorption of fructose occurs at the same time as gluten intolerance; when the condition of the intestinal mucosa improves after stopping gluten, lactose intolerance also disappears in most cases) (14),
• thin, greasy, bulky and smelly stools,
• nausea or vomiting,
• abdominal pain.

Remember that not all symptoms of celiac disease are related to the digestive system. Dermatitis herpetiformis (a rare autoimmune skin disease closely related to celiac disease), fatigue, joint or bone pain, headaches, balance problems, seizures or peripheral neuropathy, reproductive problems in both women and men, ulcers and canker sores may also occur. mouth or red, smooth and shiny tongue (5).

What else you should know about celiac disease before you get tested

Specific symptoms of celiac disease (abdominal pain and swelling, chronic diarrhea alternating with constipation, vomiting, weight loss and irritability) develop only in a fraction of patients, asymptomatic celiac disease is also becoming more common according to studies (6). Already in 2002, Swiss research found that almost 1% of examined asymptomatic adolescents without risk factors had celiac disease (7). The idea that the absence of symptoms means you don't have celiac disease is wrong. Remember that patients with celiac disease have a 3- to 10-fold higher risk of developing another autoimmune disease (8).

We have already informed you about the strong association between celiac disease and the human leukocyte antigen (HLA) genes. The main genes associated with celiac disease are HLA-DQ2 (specifically HLA-DQ2.5 and HLA-DQ2) and HLA-DQ8, which are found in almost all patients with celiac disease (99%) (9). The main benefit of genetic testing (professionally called HLA typing) is the exclusion of the diagnosis if specific HLA alleles are missing (thus reducing the risk of celiac disease to < 1%) (10).

Positive HLA testing is not diagnostic of celiac disease; it just indicates that further investigation is needed. The advantage of the genetic examination is also that HLA typing needs to be done "only once", because a person's genotype does not change.