Celiac gene testing is an amazing way to determine individuals who are at higher risk for celiac disease. However, it can also be difficult to understand. Follow below as I break down the process.
For starters, insurance does not cover celiac gene testing automatically. Physicians normally have to make a case for it. A usual case for coverage is when a first degree relative has recently been diagnosed- ie. your child, sibling or parent.
Ok, so you qualify- now what? You'll be screened to see if you have either the HLA-DQ2 or the HLA-DQ8 gene. Most doctors believe you need at least one copy of these genes to get celiac disease. The HLA-DQ2 is considered the primary celiac gene, meaning that patients who develop celiac disease always appear to have at least one copy of HLA-DQ2.
Now, everybody has HLA-DQ genes. You inherit one from your mother and one from your father. It just depends what type you get. There are many different kinds (HLA-DQ2, HLA-DQ8, HLA-DQ7 etc.) The combination you receive from your parents determines your risk factor. A patient who receives two HLA-DQ2 genes (one from their mother and one from their father) would obviously be at a higher risk for celiac disease than one who only receives one.
So, say you do have a copy or copies of the HLA-DQ2 gene. Does that mean you have celiac disease or you're definitely going to get it? Not necessarily. Believe it or not, at least 30% of the population carry the HLA-DQ2 gene. Obviously not all of them have celiac disease. This is where scientists are still researching to see why some people get their genes "triggered" and others don't. You could potentially live your entire life as a carrier of the gene and never be affected by it.
Some might ask if gene testing is even worth it then. It depends. It does help rule out the possibility of celiac disease. For instance, I have celiac disease. For information gathering purposes I got both my children tested. My daughter tested positive for the gene while my son tested negative. I now know he should NOT be able to ever develop celiac disease. Huge weight off my shoulders.
But what happens for those who do test positive for the gene? What do you do? Continue to eat gluten and get a celiac blood screening panel run (the tTG-IgA test). If you have celiac disease you will have higher than normal levels of the IgA antibodies in your blood. If you're presenting with symptoms and for some reason this test is negative, there are additional screening methods they can use. Otherwise, if you have no symptoms and the test is negative, continue on with life. Throw in the test every few years for good measure or if symptoms present, otherwise continue to eat gluten and be merry!
Feel free to reach out with any questions on this topic. Thanks for reading! - Joyana
How often should you see a doctor for follow up celiac disease care? Research has shown that currently only 35% of patients receive adequate celiac follow up care. This is problematic. Without follow up care- how do we know if we're actually improving or following the diet correctly?
Studies have shown follow up care is linked to proper adherence to the diet. As many as 50% of patients who waited four or more years for screening showed negative serology results. This demonstrates it can be more difficult to properly follow the diet than people realize and support is often necessary.
Part of this problem is a lack of information. On both the doctor and patient level. Patients believe they're doing enough by following up with their primary care physicians. But the doctors are not actually providing enough support. Many primary care practitioners are not even running follow up tTG levels or asking the right questions about compliance.
So, what can be done to alleviate this issue? Patients need to take the initiative to seek proper celiac treatment.
What actually is recommended celiac care protocol?
At the time of diagnosis your doctor should have-
3-6 Months After Diagnosis-
You should follow up with your physician or a gastroenterologist 3-6 months after diagnosis and annually thereafter to screen for nutritional deficiencies and assess any on-going symptoms you may be experiencing. They also should be confirming your adherence to the gluten-free diet and identifying any mistakes you may inadvertently be making or any possible risks of exposure. Patients on a strict gluten-free diet should have a negative anti-tTG IgA test at the 6-12 month mark.
At this visit your physician should-
12 Month Visit-
By this point your anti- tTG-IgA levels should be as close to zero as possible.
At this visit your physician should-
Following Annual Visits-
At your annual visits your physician should-
I hope this helps you all succeed in your celiac disease journey. Feel free to reach out with any further questions!
What does the Thyroid Gland Actually Do?The thyroid is a small gland in your neck. It might look small and non-descript, but this gland is responsible for major body regulation. It produces hormones whose main job is to regulate metabolism. These hormones also affect every system in the body and help to control your body's temperature regulation, weight, hair growth and more.
What Happens if your Thyroid is Out of Balance?
What Do Common Symptoms of Thyroid Autoimmune Disease Include?
What Happens if You are One of the Many with Both Thyroid and Celiac Disease?
"So, you just eliminate gluten and feel better right?" I hear this simple proclamation all the time. With the gluten-free craze and tendency to self-diagnose it seems like such an easy fix. You suspect you have celiac disease so why not give up gluten and see how you feel? If you feel better you can continue the gluten-free lifestyle and never look back. Unfortunately, it's not that easy. Or at least it shouldn't be.
For starters, there are over 300 symptoms associated with celiac disease. Celiac disease affects so much more than just your gut health. Celiac disease can also cause migraines, seizures and other neurological symptoms. It can also be linked to a number of mental health issues like ADHD, depression and anxiety. There's also the tendency for autoimmune disorders to travel in groups, so if you do in fact have celiac disease there's the increased risk of you developing another autoimmune disease as well. By seeking formal care you can be fully examined to see if you potentially have other symptoms or conditions that need to be monitored or treated.
There is also the damage you could have experienced prior to removing gluten that needs to be addressed. There are common vitamin and nutrient deficiencies present in many newly diagnosed celiac patients from years of nutrient malabsorption. If you do indeed have celiac disease and just remove gluten on your own you're also not getting an endoscopy to examine the damage done to your small intestine. You're also not getting the formal blood work done for baseline antibody levels. This baseline measurement of your antibody levels is important to track the level of antibody reaction and inflammation in your system. Having this baseline measurement is also helpful for monitoring your future healing and potential continued exposure to gluten.
Overall, the mysteries of an autoimmune disease like celiac disease and its extensive abuses of the body warrants the help and support of trained medical professionals. Don't mess with your health! Before you self-diagnose or eliminate gluten on your own, seek out the help of trained professional!
Peace, Love and Health!