Screening for coeliac disease

Coeliac disease (visceral disease) is chronic, autoimmune disease of genetic origin, caused by persistent gluten intolerance (a protein contained in cereals such as wheat, rye and barley). In sufferers, consumption of gluten leads to damage and villous atrophy of the small intestine, resulting in malabsorption and a range of symptoms: abdominal pain, constant fatigue body, weakness, frequent headaches, skin problems and recurrent infections. As people with coeliac disease often also have lactose intolerance, it is advisable to extend the diagnosis with tests to exclude other food intolerances or allergies.

Certain recognition or exclusion of coeliac disease requires reliance on three key diagnostic criteria.

1. Serological tests (blood antibodies)

Blood diagnostics is the first and most important screening step that detects an abnormal immune response of the body to gluten. What tests need to be done for celiac disease?

2. genetic testing

Genotype testing is critical in ruling out the disease. Celiac disease is almost always associated with the presence of genes HLA-DQ2 (occurs in 90-95% patients) or HLA-DQ8.

• Purpose of the study - establishing a genetic predisposition to coeliac disease.
• Negative predictive value - negative result (absence of both genes) rules out coeliac disease with a probability of more than 99% and allows a definitive end to the diagnosis.
• Positive predictive value - A positive result (presence of genes) does not yet mean coeliac disease, as these genes are also present in 20-30% healthy population. It does, however, indicate the need for further diagnostics.
• Important - genetic testing can be performed in any time of life, irrespective of the diet used (also during a gluten-free diet).

3. small bowel biopsy (histopathological examination)

In adults, biopsy remains the standard and is a prerequisite for definitive confirmation of the diagnosis.

• Procedure - is performed endoscopically during gastroscopy. The doctor takes several sections from the duodenal bulb and further sections of the small intestine.
• Objective - assessment of the degree of villous atrophy (according to the Marsh scale), which confirms the mucosal damage characteristic of active coeliac disease.
• Important - the test must be performed when the patient consumes gluten.

Celiac disease test kit - when can a biopsy be waived?

Exclusively u children with very high levels of antibodies (anti-tTG IgA 10 times above normal) and positive anti-endomysial antibodies (EmA), a biopsy can be waived according to ESPGHAN (European Society for Paediatric Gastroenterology, Hepatology and Nutrition) recommendations. In adults, this derogation does not apply.

Indications for diagnosis of coeliac disease

Screening for coeliac disease are necessary in two main situations: in the occurrence of worrying symptoms and in view of family predisposition.

Presence of troublesome symptoms - diagnostic indications

Your GP or gastroenterologist will order a diagnosis of coeliac diseasewhen the patient reports symptoms typical of the development of visceral disease and malabsorption. The most commonly reported troublesome symptoms include:

• Digestive problems - chronic diarrhoea, intractable flatulence and gas, recurrent vomiting and, in rare cases, the presence of bloody stools.
• Systemic and non-specific - unexplained weight loss and malnutrition, chronic weakness, as well as joint pain and anaemia (anaemia) due to impaired absorption.

Risk factors and family burden - preventive indications

Diagnostics are also recommended prophylacticallyeven in the absence of clear symptoms, if the patient has an increased risk of the disease. Indications for screening (genetic and serological) are a family history of coeliac disease (in first-degree relatives such as parents, siblings or children).