How Coeliac Disease May Present
- Symptoms vary from person to person and may appear in childhood or adulthood, for example:
- Bloating, abdominal pain, diarrhoea or constipation
- Unexplained anaemia, fatigue, weight loss
- Osteopenia or osteoporosis, muscle and joint pain
- Skin manifestations, dermatitis herpetiformis
- Fertility problems, recurrent pregnancy-related complications
- Neurological symptoms, mood changes
What Exactly Does the Genetic Test Detect?
The test examines HLA haplotypes most commonly associated with coeliac disease:
- HLA-DQ2.5, HLA-DQ2.2, HLA-DQ8
Key message for patients:
- A positive result, DQ2/DQ8, means that you have a genetic predisposition, but it does not automatically mean that you have coeliac disease. These haplotypes are carried by a significant part of the population, but coeliac disease develops only in a minority of people.
- A negative result for all risk variants means that coeliac disease is very unlikely. This test is often used precisely to help exclude the condition.
Who Is the Test Suitable For?
- People with symptoms where coeliac disease is being considered, including atypical symptoms
- Relatives of patients with coeliac disease
- Situations where antibody or biopsy results are unclear or cannot be reliably assessed
- Children and adults who need a quick assessment of genetic likelihood
How Is Coeliac Disease Diagnosed?
Genetics is only one part of the picture. To confirm or exclude the disease, the following are commonly used:
- Blood tests for specific antibodies, anti tTG IgA, together with total IgA
- Gastroenterological examination depending on the situation, and sometimes biopsy
Practical note: if a person has already been following a gluten-free diet for a long time, antibody results may be falsely negative. In such cases, HLA testing may help determine whether further examination is meaningful.
How Is the Test Performed?
The test can be performed using:
- Peripheral blood
- A buccal swab, taken from the lining of the mouth
The sample can be collected at our clinic, or a sampling kit can be sent to you.
When Will the Results Be Available?
Usually within 10 working days from receipt of the sample. The result includes expert interpretation and recommendations for the next steps.
Can Coeliac Disease Be Treated?
Coeliac disease is a chronic autoimmune condition that cannot be cured with medication, but in most cases it can be very well managed. The basis of treatment is a lifelong and strict gluten-free diet.
What Is the Goal of Treatment?
In most patients, a gluten-free diet leads to:
Relief of symptoms, sometimes within weeks, sometimes over several months
Gradual healing of the small intestinal lining
Normalisation of laboratory values, such as antibody levels
Reduced risk of long term complications
What Does a Strict Gluten-Free Diet Mean?
It is not just about avoiding bread. Prevention of trace or hidden gluten and contamination is also important:
- Reading food labels
- Being careful with foods and supplements where gluten may be hidden
- Taking precautions when preparing food at home, for example with a shared toaster or chopping board
- Checking gluten-free declarations in restaurants
How Is Follow-Up Managed After Diagnosis?
- After starting the diet, the following are usually recommended:
- Monitoring of clinical symptoms
- Follow-up blood tests, including a decrease in specific antibodies
- Assessment of nutritional status and possible deficiencies, such as iron, folate, vitamin D or B12
In some patients, cooperation with a nutritional therapist and gastroenterologist
What If Symptoms Do Not Improve?
If symptoms persist despite the diet, or if antibodies remain positive over the long term, the most common cause is unintentional gluten exposure, for example trace amounts. In this situation, it is advisable to:
- Review the diet and possible sources of contamination
- Complete a gastroenterological examination according to the doctor’s recommendation
Important Notice for Patients
A gluten-free diet should not be started blindly without testing if coeliac disease is suspected. The diet may improve symptoms, but it can also distort antibody and histology results and make it harder to confirm the diagnosis.
