Why is celiac disease so hard to detect early, and why is early detection of the gluten disorder so crucial? In this article, we’ll discuss these topics and more. Please read my disclosures.
Early detection of celiac disease has baffled researchers for decades, particularly in patients with silent or asymptomatic celiac disease.
Unfortunately, in order to diagnose a patient with celiac disease, the patient must have what is known as “total villous atrophy.” This means the microvilli, which are the hair-like follicles surrounding the small intestine responsible for absorbing nutrients, are flattened and damaged.
In other words, doctors only discover a patient has celiac disease once the damage is done.
But are there warning signs that would allow for the disorder to be detected sooner? And is the limited diagnosis criteria (total villous atrophy) too limiting in the diagnostic process?
In this article, I talk about why I believe early detection of celiac disease is crucial to the health of millions of Americans. I also offer up ideas for how we can better detect and diagnose celiac disease, particularly in at-risk populations, and what doctors can look for to detect celiac disease before the damage is done.
I am not a doctor. Information in this article is either with citation or is of my own opinion. Please consult your healthcare provider before making any changes to your diet and for a proper diagnosis.
There are several reasons why early detection of celiac disease is crucial:
(1) We need to arrest disease before it starts
As mentioned, doctors cannot diagnose people with celiac disease if they only have partial or mild villous atrophy; a patient must have full villous atrophy in order to “earn” a celiac disease diagnosis.
This means millions of people with mild to moderate villous atrophy may be on the path to an eventual celiac disease diagnosis without even knowing it!
This also explains why the vast majority of people diagnosed with celiac disease are diagnosed as either an adult, middle aged and into their senior years.
These individuals may have had mild villous atrophy, but it took them an average of 6-10 years (sometimes more) to officially get diagnosed with celiac disease.
This means the disease was allowed to progress, damage the intestinal lining, cause nutritional deficiencies, wreak havoc in the body, put someone at higher risk for accumulating other diseases, and ensures someone will feel sicker and sicker before finally getting help.
(2) The damage can be life-altering
Undiagnosed celiac disease in children can lead to growth and development disorders (which are non-reversible), and puts children at greater “risk of malignant diseases and the emergence of mental disorders.”
This is why it’s essential that a growing and developing child is able to properly absorb nutrients, which is virtually impossible to do with a damaged small intestine.
Doctors in Denver, Colorado followed 1,339 children born from 1993-2004. They followed the children for 20 years and regularly tested them for the development of transglutaminase auto-antibodies (tTGA), a marker for celiac disease. They found that 112 children developed celiac disease autoimmunity, and 66 of those patients eventually also met criteria for celiac disease. Of the children diagnosed with celiac disease, 30 percent had silent celiac (asymptomatic).
This study offers several important findings to understanding the critical nature of early detection in children:
(a) The study found that celiac disease was three times as prevalent in this test group than in the U.S. population. This either suggests that the prevalence of celiac disease is much higher than original researchers noted, or more likely, that the occurrence of celiac disease in this generation of children is triple the national average. The fact that this new generation of children may be more susceptible to celiac disease makes the urgency for early detection even more critical.
(b) The study’s findings also suggest the case for more widespread screening for celiac disease in children. Screening should be done throughout adolescence (and even into adulthood), as nearly half of diagnosed participants developed celiac disease after the age of five.
(3) Too many people remain undiagnosed
About one percent of the population or 1 in 100 people have celiac disease, however, the kicker is that 80 percent of people with celiac disease don’t know they have it! This adds up to about 1.4 million people in the U.S. who have no clue that celiac disease is raging inside of them.
Without better screening techniques and recognition of celiac disease symptoms beyond digestive disorders, I don’t know that people will be able to detect the disease early enough before it turns into a more serious disorder(s).
(4) Better long-term outcomes for patients
Early detection of celiac disease is critical to offering better outcomes to patients. Early detection is essential to preventing the development of more serious conditions and even early death.
The sooner the diagnosis, the sooner the patient can arrest the damage and begin properly managing their disease via a gluten-free diet.
(5) More funding
Celiac disease is the most prevalent digestive disease in the U.S., yet it receives the least amount of funding of all digestive diseases. We need this to change and help researchers understand the just how pervasive the disease has become.
In order to fully understand the reach of celiac disease, we need to expand the parameters of diagnosis beyond full villous atrophy.
Can someone have, say, Stage 1 celiac disease, if they have only mild villous atrophy? We do this in cancer patients, why can’t we do this with celiac disease patients? Why do we have to wait for total villous atrophy, or as an analogy, Stage 4 cancer, to diagnose the issue?
I’m not a doctor, so I don’t know the answer to this issue, but it’s something that I want the celiac disease research community to consider. Let’s not wait for total villous atrophy to make the diagnosis.
What We Need to Do
We need to look at a variety of factors to properly detect and diagnose celiac disease early on.
(1) Expand Diagnosis Criteria
Research published in the American Journal of Gastroenterology (2006) says that the diagnosis of early developing celiac disease should be based on a combination of clinical features, histology, serology, and genetics. I couldn’t agree more.
The first thing we need to consider is serology, or blood screen tests. While the current blood tests for celiac disease are very accurate for detecting celiac disease in someone with total villous atrophy, it does a poor job at detecting it in someone with partial villous atrophy. In fact, the blood test can be wrong seven out of ten times, says Dr. Tom O’Bryan, in cases where there is only partial villous atrophy.
Additionally, the blood test also is not error-proof even when celiac disease is present. For example, celiac disease patients are more likely than the rest of the population to have an IgA deficiency. When an IgA deficiency is present, it creates a false negative on a celiac disease antibody test despite the fact that a person might legitimately have celiac disease. This is why celiac disease tests need to test for IgA deficiencies as well.
(2) Improve Testing Processes
We also need to be cognizant that histology (biopsy of tissue) isn’t perfect either. Celiac disease detection via intestinal biopsy can be marred by errors.
In one study, researchers said that that “biggest problem” in the diagnosis of celiac disease is proper “interpretation of a biopsy specimen,” as well as analyzing an “adequate” number of samples and “poorly oriented biopsies.”
The American Journal of Gastroenterology (2006) reports that “conventional histology is not anymore a gold standard in the diagnosis” and suggests that the diagnosis criteria be revised.
(3) Expand Availability of Genetic Testing
One way a doctor can initiate early detection of celiac disease is through genetic testing. Ninety percent of celiac disease patients have the HLA-DQ2 gene while 10 percent have the HLA-DQ8 gene, and the HLA-DQ2 and HLA-DQ8 genes were detected in every early developing celiac disease patient. If a patient has a celiac gene, and mild or moderate villous atrophy is present, doctors can detect the early onset of celiac disease.
(It’s important to note, however, that just because you have a celiac gene doesn’t mean you will have celiac disease. It just means you could have it; however, some sort of trigger must “turn on” the gene.)
I believe we need guidelines for monitoring the early onset of celiac disease, particularly in genetically predisposed individuals. Should these individuals be tested yearly, every 2-3 years, or what given that celiac disease may “turn on” at any time.
The prior mentioned Denver study sheds some light on this too. Nearly half of celiac diagnosed participants in the study developed celiac disease after the age of five, but they all had tested negative for the disorder prior to the five year mark.
Early Detection is Crucial
There’s no doubt that the earlier we can detect and diagnose celiac disease, the better the long term outcomes will be for patients. However, the current testing methods, while viable, need further research and methodology.
We also need doctors to consider diagnosis beyond a simple blood test and consider expanding the diagnosis criteria to those with partial villous atrophy (not just full villous atrophy). We also need doctors to come up with guidelines to monitor those genetically predispositioned to the disease.
What do you think? Please leave a comment to share your thoughts.