Celiac disease

Celiac disease is a chronic inflammatory enteropathy with an autoimmune pathogenesis that manifests in genetically predisposed individuals following the ingestion of gluten found in certain foods. 

 

The consumption of gluten in the diet leads to a gliadin-dependent inflammation of the intestinal mucosa, resulting in altered absorption of nutrients present in food.

 

In individuals affected by celiac disease, this condition can present with a clinical picture including:

• Chronic intestinal disorders (abdominal pain, constipation, diarrhea, bloating)
• Recurrent aphthous stomatitis
• Hypoplasia of dental enamel
• Hypertransaminasemia
• Iron deficiency (with or without anemia)
• Chronic fatigue
• Rickets
• Osteopenia
• Dermatitis herpetiformis
• Recurrent hives
• Fertility disorders
• Epilepsy with intracranial calcifications and other neurological disorders (ataxia, polyneuritis, etc.)
• Eating disorders (anorexia nervosa)

In pediatric age, poor growth and abnormalities in pubertal development may also occur.

Genetic analysis involves typing the HLA DQ2 and DQ8 alleles. The presence of one or both alleles increases an individual’s susceptibility to developing the condition.

At present, the only possible treatment for celiac disease is the total and permanent exclusion of gluten from the diet.

What can be the results of this test?

Positive: presence of the DQ2 and/or DQ8 alleles. However, this result has a limited diagnostic value as the presence of these alleles alone is not sufficient to determine the condition. It has been estimated that about 1 out of 40 genetically predisposed individuals who consume gluten in their diet develop celiac disease at some point.

Negative: absence of the DQ2 and DQ8 alleles. A negative test result makes it highly unlikely to develop celiac disease over the course of life.

Why do it?

The genetic test allows evaluating whether there is a predisposition to developing celiac disease or not.

When is it recommended?

According to ministerial guidelines, HLA typing for celiac disease is recommended:

in at-risk categories, for example, in first-degree relatives of individuals with celiac disease. A negative test result in these individuals makes the development of celiac disease unlikely and subsequent screening with serological methods unnecessary.

as a second-level test in patients with uncertain diagnosis of celiac disease, such as in cases of doubtful or discrepant antibodies and/or biopsy results.

How is the test carried out at Clinica Arsbiomedica?

For the execution of the test, a blood sample is required.

How to prepare?

Fasting is not necessary. It is recommended to bring any previous clinical reports related to celiac disease for review.