Celiac disease diagnosis

IMPORTANT: never stop eating gluten before your

doctor tells you to do so.

This is the only way to avoid doing the tests for nothing and to help Doctors do a proper diagnosis.

First of all, it is important to state that there are not standard symptoms… actually there are celiac people not presenting any type of symptoms… this is one of the reasons why the diagnosis rate is so low and does not match with the statistics of 1% of population… Another reason is that the celiac disease symptoms can be associated with other illnesses like psoriasis, fibromyalgia, diabetes (type 1), vitiligo, multiple sclerosis, rheumatoid arthritis… that can be diagnosed apart from celiac disease. In case the patient is also celiac and the gluten intolerance is not detected, then the treatments for these other illnesses will never work as good as they would.
Anyhow, the diagnosis rate considerably rose along the past years. The diagnosis of celiac disease is a combination of different tests for a correct detection:

  • Blood test.
  • Intestinal biopsy.
  • Genetic predisposition test.
  • Confirmation after following a Gluten Free Diet during 12 months.

The prevalence of celiac disease is around 1%.

There are specific blood indicators that are related to gluten intolerance. These are:

  • Tissue transglutaminase antibodies.
  • Total immunoglobulin A (IgA).

Usually, before the diagnosis you will get a high value for them and, after following a gluten free diet, the value will be normalized to the average accepted value. There are celiac people giving negative indicators even though they eat gluten.

This test consists on taking different samples of the small intestine tissue to check if the mucosa is damaged or not. The samples are collected by endoscopy, introducing a catheter through the mouth until the intestine.
About 10 years ago, it was usual to practice 3 biopsies to the patient:

  • First one during diagnosis.
  • Second one, two years after eating gluten free.
  • Third one, after some months of eating gluten again, to prove that the intestine is damaged again.

Since the blood indicators were included in the diagnosis process, only one biopsy is done.
Since 2011, the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) stated that when the patient shows classic symptoms (diarrhea, bloated belly…), with positive serological indicators, HLA-DQ2/DQ8, it is possible to diagnose celiac disease (gluten intolerance) without biopsy.

The genetic predisposition is conditioned by having the gens HLA-DQ2 and HLA-DQ8. Without them it is not possible to develop celiac disease.
This test is not part of the diagnosis, but is good for the relatives of the celiac person, in order to know if they are candidates to develop this eating disorder or not. Even though having the gens does not mean you will be celiac.

Once you are diagnosed as gluten intolerant, your Doctor will ask you not to eat gluten anymore. After a defined period of strictly following a Gluten Free Diet, you will take a second round of tests in order to check blood indicators and the status of the intestine mucosa.  If there is an improvement, you will have to follow a diet free of gluten forever. (Find here more information about a gluten free diet).

For further information about celiac disease diagnosis, contact your Doctor.

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