If you believe you have Celiac Disease it is important to never self diagnose yourself from the symptoms that you may be experiencing; it is important to seek professional advice from a medical practitioner.
The first step is to have a blood test which will measure antibodies in the blood. This blood tests is not a definite diagnoses but is useful in the initial stage as it will determine if the antibodies in the blood are higher than normal. It is well known that people with celiac disease will have higher antibodies and therefore warrant further investigation.
The next step is to have an endoscopy.
A gastroenterologist will perform an endoscopy - (this is where a camera is inserted through the mouth, down the throat, into the gastro-intestinal tract whilst heavily sedated.) This endoscopy allows the specialist to view the stomach lining and the small intestine. They are looking for any damage caused to the villi that line the small intestine. The villi are tiny finger-like protrusions lining the small intestine that allow the nutrients from food to be absorbed. If the villi are damaged, that is they have a flattened or 'chopped off' appearance, this may indicate an intolerance to gluten.
During the endoscopy, the specialist may take a biopsy (cut out a small portion of the lining) to allow the villi to be examined more closely under a microscope. If this shows that the villi are damaged, this would confirm celiac disease, then a gluten free diet should be recommended and started. A follow-up biopsy is normally repeated after 6 months.
It is very important that a 'normal' diet i.e. eat foods that contain gluten such as bread, cookies, cereals is consumed at least one week prior to any testing. If foods that contain gluten are not eaten prior to the testing, then this may give a false negative result. This means a diagnoses for celiac disease may not be made, when in actual fact it should have been. For some people who suffer greatly from bloating, pain, stomach cramps, the thought of eating gluten is something that you may not want to do again; however if abstinence from gluten is maintained, the immure system will not produce the antibodies needed to be detected in the blood test or the endoscope may not show damaged villi.
Genetics can also play a part in determining celiac disease. Studies of celiac disease have shown the relationship between celiac disease genes and the environment. It is believed, if one or both genes known as HLA DQ2 and HLA DQ8 are present, there is a possibility of developing celiac disease at some stage. It does not mean this will definitely occur, just that it is a possibility. If these genes are not present, it is highly unlikely that celiac disease will develop. This is useful information for people who have not found relief on a gluten free diet and might now look elsewhere for answers.
This genetic test can be performed accurately on people who are on a gluten free diet. This might be a starting point for people who do not want to consume gluten without at least seeing if it is possible they may have the genes that predisposes them to the disease.
Should relatives be tested for Celiac Disease?
It is advisable to be tested for celiac disease if a first degree relative, like a sibling or parent, who has been diagnosed with celiac disease. Studies from the University of Chicago Celiac Disease Center has stated a first degree relative has a 1 in 22 chance of developing celiac disease at some stage and second-degree relatives (nephews, nieces, cousins) has a 1 in 39 chance.
Test should be carried out even if they are not experiencing any current symptoms of celiac disease. Sometimes the symptoms for celiac disease are not obvious and it is safer to rule out celiac disease than be doing damage to your villi that you are unaware of and could cause serious ill health later in life.