The National Foundation for Celiac Awareness (NFCA) recently launched “Seriously, Celiac Disease”, a national campaign dedicated to raising awareness among people with diagnosed celiac disease (CD) about the importance of having a serious conversation with relatives who may be genetically at-risk for celiac. Celiac is a genetic autoimmune condition, and family members of someone diagnosed are also at risk of developing the condition (at any point in life, and even if asymptomatic). A delay in diagnosis may lead to other health complications such as osteoporosis, additional auto-immune diseases, and even cancer. As part of their “Seriously, Celiac Disease” campaign, NFCA offers helpful tools, such as discussion guides, personal stories, brochures and more, to help prepare for the conversation! They also include information for relatives of a family member diagnosed with CD which is helpful when meeting with a health care professional. For a more successful outcome NFCA recommends a one-on-one conversation with family members, rather than sharing the information via social media (their research has proven this). When people receive the proper education about celiac, they are more likely to seek testing! NFCA recommends using the following TALK. TELL. TEST. approach when discussing testing with at-risk family members:
It’s important to talk to both immediate and extended family members soon after a celiac disease diagnosis to help them understand why getting tested is important for their own health. These private conversations should be initiated in person using a serious yet personal tone.
Since many people with celiac disease don’t have any symptoms at all, it can be hard to clearly explain what undiagnosed celiac disease can do to the body. That’s why it’s important to relay the facts of celiac disease to relatives. Once one person is diagnosed, all biological relatives need to know that celiac disease is genetic. Those diagnosed play a key role in helping family members understand the importance of a formal diagnosis and its long-term management with a team of knowledgeable healthcare providers.
A simple blood test is the first step in learning if a person has celiac disease. Depending on the results, a biopsy of the small intestine to check for damage may be ordered by the physician following the blood test. (Read our Q&A below with Dr. Daniel Leffler, M.D., M.S., NFCA Scientific/Medical Advisory Council Member and Director of Research for The Celiac Center at Beth Israel Deaconess Medical Center in Boston addressing the blood test for celiac.)
CeliacCorner is 100% on board with helping the NFCA get the word out about their “Seriously, Celiac Disease” campaign, to help get more people diagnosed, particularly with Celiac Awareness Month (May) just around the corner. Open HERE to view all of NFCA’s helpful resources, including a Public Service Announcement (video), everything you will need to get your conversation started (whether discussing with an at-risk family member or with your doctor).
The first step towards a diagnosis of celiac disease (or ruling one out!) is a simple blood test. A NFCA rep provided me with an opportunity to interview a leading US celiac disease expert, Dr. Daniel Leffler, M.D., M.S., NFCA Scientific/Medical Advisory Council Member and Director of Research for The Celiac Center at Beth Israel Deaconess Medical Center in Boston, to discuss the blood test for CD.
I have been fortunate to attend several of Dr. Leffler’s lectures at NECO, New England Celiac Organization’s (formerly Healthy Villi) Conferences held in Massachusetts and always leave with a greater knowledge of all things celiac and living a healthy, gluten-free lifestyle. I would like to thank Dr. Leffler and the entire team at the Celiac Center at BIDMC, for all they do for the celiac/non-celiac gluten sensitive community. Paula Gardner. Co-founder, CeliacCorner
The main genetic component is the HLA DQ2 and HLA DQ8 genes, which virtually all people with celiac disease carry and is useful as a test for risk for celiac disease. Risk of celiac disease is also highly related to having affected family members. In the general population, the risk of celiac disease is about 1% and if you have a first degree relative with celiac disease your risk is 10% and if you have a second degree family member the risk is 5%. Having a family member with celiac disease is one of the most important risk factors for having celiac disease yourself.
The most important thing to remember is that the initial testing for celiac disease is just a simple blood test, which is almost universally covered by insurance so there should be no real barrier to getting tested. If this blood test is positive, then you can have a discussion with your doctor about the potential benefits of confirmatory testing and treatment, but if you never find out you could be doing great damage to your health and not realize it until it is difficult to reverse. The www.SeriouslyCeliac.org website offers a video, discussion guides, and personal stories to help those suffering with celiac disease have a serious, one-on-one conversation with their family.
Some diseases present in similar ways in most people. Celiac disease is not one of these. Many symptoms that seem very far away from the intestine, such as hair loss or joint pain, can be the main symptoms of celiac disease. In fact, many people who say they are ‘asymptomatic’ prior to being diagnosed with celiac disease actually report feeling much better once they start a gluten free diet. If you don’t get tested, you will never know what you might have to gain from being diagnosed.
There are some variations in celiac testing and differences in the kits used to run the same type of test but for the most part centers will run the IgA tissue transglutaminase or tTG test. This is the best single test for celiac disease and is the one you should ask for.
Getting testing in a doctors office is the best way. There are very good home tests for celiac disease available, mostly based on tTG. unfortunately few, if any, are currently available in the United States. There are a number of at home celiac genetic tests which can be useful but can only rule out celiac disease, not diagnose it.
Unfortunately, it is very difficult to test for celiac disease in someone on a gluten free diet. This is why we strongly recommend testing before people change their diet. The genetic test is the only one that is useful in someone on a gluten free diet, as if this is negative, it rules out celiac disease.
The genetic test is very useful for people who are at risk for celiac disease due to family history, have uncertain test results (such as when the blood test is positive but the biopsy is negative or vice versa), or who are on a gluten free diet prior to testing. Most people do not need the gene test however.
If you test negative for the celiac genes, then yes you never have to worry about celiac disease again. The blood tests only tell you if you have celiac disease currently and we know that people can get celiac disease at any point in life when they are exposed to gluten. That being said, in children we recommend repeat testing every 1-3 years but in adults the odds of going from negative to positive are pretty low. I recommend a single test, and only repeating the test if you develop new symptoms or concerns.
Celiac disease is a chronic immune disease and as with all diseases in that class, follow up is strongly recommended. Guidelines suggest routine follow up with a physician and dietitian skilled in celiac disease every one to two years, even if you are feeling well, and more frequently if not. These visits should include celiac and nutritional blood tests. The purpose of this follow up is to ensure that your celiac disease is well controlled, and that any potentially problems are caught early and resolved.
For the most part, modern celiac tests are very good however they are not perfect and there can be some false negatives (blood test is negative but you really have celiac disease) and false positives (blood test is positive but you don’t have celiac disease). The gold standard remains intestinal biopsy and should be done in most or all cases where the blood test is positive and considered in cases where the blood test is negative but there is a strong concern for celiac disease, as with people both symptoms and a family history of celiac disease.
Thank you, Dr. Leffler!
NFCA Press Release, open HERE
[People in the CD community can follow the hashtag #TalkTellTest to join in the conversation with NFCA and others having similar experiences in helping their family members get tested. Also consider taking this 2 minute survey to tell the NFCA about talking to your family about CD testing. You will be entered to win a prize pack from Schar, their sponsor, just for filling out their survey]