The Gluten Free Society recently announced that it is selling a kit allowing people to test themselves for celiac disease in the privacy of their own homes. This test costs $385. It seems to be marketed as a way for someone to get a diagnosis without a blood test – only a cheek swab is needed.
The question of whether or not you should do this test does not have a simple answer. You have to understand what the kit tests, and what it does not test. You also need to decide whether or not you trust your doctor and conventional Western medicine to actually diagnose your celiac disease.
If you are in the process of learning about celiac disease, you may or may not yet know enough to decide what to do. You should take full advantage of the articles on this site to learn about CD. Celiac disease is now being used to mean the actual disease, whereas celiac sensitivity usually refers to a condition in which people have symptoms like cramps, diarrhea, and fatigue from eating gluten but do not suffer the intestinal damage that occurs in people with actual celiac disease. In the past these terms were used more interchangeably.
To get celiac disease, you first must have genes that make what are called HLA, or Human Leukocyte Antigens, of a very specific type. Essentially everyone with celiac disease has either HLA-DQ2 or HLA-DQ8. But these are not rare genes. Some 25% of people of European ancestry are HLA-DQ2 positive. Most of them do not develop celiac disease.
If you have one of these HLA groups, you could develop celiac disease, especially if it runs in your family. But that is not enough. There are other genetic factors that have not been identified. Also, you must eat gluten in wheat or similar substances in rye or barley. It appears there are other necessary triggers, like frequent infections in infancy. All of the factors have to come together in a “perfect storm” to cause celiac disease.
The diagnosis of celiac disease is made in very similar ways in the United States, most Western countries, and even other areas in the world where people who have access to healthcare. Blood tests may be used for screening. They measure antibodies in the blood of people with CD, which they make as a part of the intestinal tissue damage from gluten.
Current tests look for antibodies against certain parts of the intestine such as tissue transglutaminase, in a test called tTGA, as well as antibodies to the intestinal endomysium called EMA. The part of gluten causing the damage is called gliadin. Newer blood tests look for antibodies to altered gliadins, which are called deamidated gliadin-related peptides (DGPs). Others look for two types of antibodies (IgA and IgG) to the DGPs. Many labs use combinations of these blood tests. The names are not important, but you do need to know that they are tests for antibodies and not genes.
Positive blood tests are followed by intestinal biopsies, which are relatively simple and safe procedures.
Before committing yourself to a lifetime of gluten-free eating, you need a definite diagnosis that can almost always be made this way. If you are simply gluten sensitive, you just need to see if your symptoms improve when you don’t eat gluten.
The Gluten Free Society is advertising its test as being able to diagnose both celiac disease and sensitivity. Neither can be done with a cheek swab. Cheek swabs are used for genetic testing, and reading the description of the test makes this a bit clearer. It is testing for genes, in this case HLA types.
The site has some of the following statements:
“You cannot control what genes you are born with, but you can identify them and change your diet and lifestyle to accommodate them. Fortunately gluten sensitivity and celiac disease can be evaluated with genetic testing.”
“HOW MANY GENES ARE TESTED? 2 genes are tested. Both the HLA-DQ alpha 1 and beta 1 genes are measured.”
So what you can learn from this test is whether or not you have the underlying predisposition which could allow you to develop celiac disease. If you wanted to swab your infant’s cheek and find out, and not give him or her gluten if either HLA test is positive, you could potentially prevent celiac disease if you were 100% successful and your child continued this for his or her whole life.
You could give up gluten yourself. But you will not know whether or not you have celiac disease based on this test.
There is more information on the Gluten Free Society website, including their way of looking at standard medical testing for celiac disease. They also offer help if the test comes back positive.
Celiac disease is serious. It can make you very ill. You can put yourself on a gluten-free diet which will help, but that would not take care of all your medical needs. You could have complications from CD, such as anemia or osteoporosis, which need to be diagnosed and treated. You could have another related autoimmune disease, such as type 1 diabetes or thyroid disease, and these would also need to be treated. In rare cases, some people with celiac disease do not improve on a gluten-free diet. A small percentage of those who do not improve may develop intestinal cancer. You need to know if you could be in this group.
If you have reason to believe you have celiac disease and you have health insurance, your doctor will order needed tests, make the diagnosis, look for anything else, and treat you. If your tests are negative, you can decide if you have symptoms of simple sensitivity and want to try going off gluten. As long as you are careful to eat nutritious food, there is no danger in that.
If you don’t have insurance, the $395 price tag on this test is a hefty one, and you would still need a doctor to check if you actually have celiac disease. You could decide to manage the possibility on your own, and hope that if you have insurance in the future any other problems can be addressed.
The most understandable reason that people want to use home testing is to prevent a diagnosis or specific information from getting into their medical records. They are afraid insurance companies might deny them coverage or raise their rates. In the not-too-distant future this should not happen because of healthcare reform, although that does not address life or disability insurance.
But if you tested yourself and your test was negative, getting your doctor to do it might have cost you less and there would still not be anything bad in your records. If your test was positive, you would still need a doctor to see if you actually have celiac disease, since the overwhelming majority of people positive for the two HLA types to not have CD. If you turned out not to have it, again your record would reflect the fact that you don’t have celiac disease.
The reason most people would go this route in the end is if they do not trust a doctor to diagnose CD or treat it properly; they don’t believe the other testing is necessary or that the associated conditions need evaluation; they don’t want a Western medical approach; or they don’t want any information at all in their medical records.
What you do depends on what you believe. You can certainly order and do the test to find out if you are predisposed to celiac disease. If the test is negative, that might reassure you enough to warrant spending $395. Or you could decide if the test is positive to seek medical help.
You must decide for yourself or your children what you believe, who you trust, what type of care you want, and how much money you have to spend for either this test or doctors’ visits. Every person must make their own decision.
Dr. Anna Kaplan
Photo courtesy of The Marilyn Denis Show