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Celiac disease: what is it, who needs genetic testing and why is it done?
Celiac disease is a chronic disease of the small intestine caused by intolerance to gluten, a protein found in wheat, rye, and barley. In celiac disease, consumption of gluten-containing foods causes inflammation of the lining of the small intestine, which leads to damage to its villi, impaired absorption of nutrients, and the development of various complications.
To prevent the progression of the disease and avoid serious consequences, it is important to conduct a comprehensive examination in a timely manner. Medilab Plus offers advanced genetic testing for celiac disease using the PCR method - you can learn more about the service on the website:
https://medilab.km.ua
Information about preparation, registration, and consultations is available at the link:
https://medilab.km.ua/analizy
What is celiac disease and why is it dangerous?
Celiac disease is not just a food allergy, but a genetically determined autoimmune disease. When gluten is consumed, an immune reaction occurs in the body of a person with celiac disease, which leads to inflammation of the small intestine, atrophy of the villi, and impaired absorption of vitamins, minerals, and nutrients.
This can cause a number of complications, including:
chronic diarrhea
weight loss
iron deficiency anemia
osteoporosis
infertility
increased risk of developing malignant intestinal tumors
Typical symptoms of celiac disease
| Main manifestations | Possible accompanying symptoms |
|---|---|
| Abdominal pain, flatulence | Dermatitis |
| Chronic diarrhea | General weakness |
| Nausea, vomiting | Rapid fatigue |
| Weight loss or insufficient weight gain | Stepatorrhoea (fat in stool) |
| Anemia | Growth failure in children |
Comprehensive diagnosis of celiac disease includes:
Endoscopy and biopsy of the small intestine
Serological study (determination of IgA and tissue transglutaminase antibody levels)
Genetic testing for the presence of HLA-DQ2/DQ8 markers
It is especially important to consider that genetic testing is not a diagnostic method for confirming celiac disease, but its negative result allows for a high probability of ruling out this disease.
What is the importance of genetic testing?
Close 95% patients with celiac disease have one of the genotypes:
HLA-DQ2.5 (DQA105/DQB102)
HLA-DQ2.2 (DQA102/DQB102)
HLA-DQ8 (DQB103:02/DQA103)
Identifying these markers helps:
confirm genetic predisposition
identify the risk group
predict the likelihood of developing celiac disease
| Haplotype | Risk of developing celiac disease |
|---|---|
| HLA-DQ2.5 | High |
| HLA-DQ8 | Moderate |
| Lack of markers | Low (almost rules out celiac disease) |
When is genetic testing necessary?
| Indication | Who is recommended? |
|---|---|
| Presence of symptoms of celiac disease | Patients with suspected disease |
| Familial predisposition | Individuals with a family history of celiac disease |
| Unexplained digestive disorders | Patients with mild symptoms |
| Preparing for a biopsy | To eliminate the need for invasive studies |
| Lack of effect of gluten-free diet | To control the diagnosis |
When testing is particularly indicated
If symptoms persist despite a gluten-free diet
Before a small intestine biopsy (if celiac disease is suspected)
If first-degree relatives have a confirmed diagnosis
If celiac disease is suspected, but other tests do not confirm the diagnosis
In case of relapses or ineffectiveness of therapy
What does a genetic test result show?
| Result | What does it mean? |
|---|---|
| HLA-DQ2/DQ8 detected | There is a genetic predisposition to celiac disease |
| Not detected | High probability of not having celiac disease |
The presence of genetic markers does not always mean the presence of the disease, but allows you to identify a risk group.
Genetic testing for celiac disease is a modern and safe method that allows:
Identify hereditary predisposition
Rule out celiac disease in doubtful cases
Start prevention in risk groups on time
Avoid unnecessary invasive tests
Medilab Plus offers modern advanced genetic testing using PCR with high accuracy and reliability of results.
