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To achieve a celiac disease diagnosis the doctor would start with taking a clinical history including family history. He may do physical examination of the body, abdomen and teeth. In case of suspicion of celiac disease, he would ask for some diagnostic tests like blood tests, genetic tests, and biopsy. In this article, you will know about step by step guide for celiac disease diagnosis.
The doctor would take a detailed history of your symptoms including digestive and non digestive symptoms. He would take history considering all possible risks factors associated with celiac disease like family history, associated disease conditions (type I diabetes) and others, and would try to come to a provisional celiac disease diagnosis.
With physical examination, the doctor would try to check for obvious signs of celiac disease on the body, like:
Signs of malnutrition like anemia etc.
Skin rash (Dermatitis herpetiformis)
Dental examination- abnormality of enamel (outer covering) of the teeth like brown, white or yellow spots. This is
especially important in children.
Do a local examination of abdomen by pressing/tapping the abdomen to check for pain or by listening to the bowel sounds.
Read More – Causes, Signs and symptoms of Celiac Disease
I. Blood tests
They broadly consists of antibody tests and genetic tests:
Antibody tests: they detects and measures the level of the antibodies present in the blood formed against gluten.
1. tTG-IgA (tTG) antibody test: is most commonly used antibody test used for screening patient for possibility of celiac disease. This is a very good test however during interpretation two things needs to be considered:
• The results could be negative in IgA deficiency and child below 2 years of age.
• The results could be positive even due to other disease conditions especially due to infection.
2. Total serum IgA: this test is done to check for IgA deficiency, to rule out possibility of false negative results of tTG-IgA (tTG) antibody test.
Genetic tests: these test are done to check for the presence of specific genes namely, HLA DQ2 and HLA DQ8, found in almost all individuals with celiac disease. Positive test doesn’t suggest the diagnosis of celiac disease but susceptibility to develop celiac disease. Negative test indicates high unlikelihood to develop the celiac disease.
Irrespective of the results of blood tests, in cases with significant suspicion of celiac disease, it is essential to get intestinal biopsy done to confirm the celiac disease diagnosis.
here the sample is taken from the affected tissue which is then investigated under the microscope to confirm the celiac disease diagnosis.
Intestinal biopsy: the intestinal biopsy is taken with help of endoscopy, a tube fitted with camera that’s inserted through mouth. Positive result of the intestinal biopsy is considered as confirmatory (gold standard) for the diagnosis of celiac disease.
The procedure involves sedating the patient and inserting an endoscope through the mouth. The camera attached to the endoscope helps in visualization of the abnormality and its extent. The tools attached, helps in taking out a sample of the tissue from the small intestine to confirm the celiac disease diagnosis.
Caution: It is important to note that until biopsy is not done a person shouldn’t leave eating gluten as it can hampers the biopsy result giving false result in some patients.
Skin biopsy: is done if u have some skin rashes and doctor suspects them to be dermatitis hepertiformis. Small pieces of skin is taken from the rash which is then sent to lab for examination. It is seen under microscope and checked for antibodies found in celiac disease. If the skin biopsy and blood test both suggest presence of specific antibodies seen in celiac disease, it may confirm the celiac disease diagnosis avoiding the need intestinal biopsy.
Screening for celiac disease
Screening means doing tests in people with no symptoms to check for a particular disease. Screening for the celiac disease is not advisable in general population. However, it can be done in people who have the risk factors for celiac disease like family history of celiac disease or people who have type I diabetes.
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