Celiac disease is a serious autoimmune disease that is not receiving the attention it should by many medical professionals and even the National Institutes of Health. It can act as a clinical chameleon, eluding diagnosis, and this has resulted in the average time to diagnosis being ten years, which I refer to as the “decade to diagnosis.” Here are some startling facts.
While those facts can be alarming, for me the true story goes back to the clinical aspects of the disease, the delay in diagnosis and how it presents to the medical professional in practice. Often symptoms are vague, outside of the gastrointestinal tract, and cause the physician or even specialist to either not consider celiac disease as a possibility, or an incomplete diagnostic panel is undertaken, which can result in misdiagnosis.
Deepening this story is the strong potential that the physician may not be fully aware of the nuances of celiac disease testing and result in continued patient suffering and the decade to diagnosis. McCormick and colleagues presented this potential issue at an American College of Gastroenterology conference and Assiri and colleagues and Zipser and colleagues discovered similar findings. For example, for many doctors an IgA tissue transglutaminase antibody analysis could be the first and only blood test used to determine risk in a patient. Yet, a selective IgA deficiency has a rate of occurrence 10 to 15 times more frequent in celiac disease patients than their non-celiac counterparts. With that in mind, if testing a single IgA based gluten test, it is wise for physicians to measure total serum IgA first, because that should dictate the correct testing course of action. An IgA deficiency renders the most popular initial blood test screening moot and physicians should consider other serology, measuring gliadin DGGL gliadin deaminated IgG antibodies.
There are some options for serology testing for the potential celiac disease and should be selected on unique requirements of the individual patient. These tests include tissue transglutaminase IgA and IgG, DGLDN gliadin deaminated antibodies IgG and IgA, endomysial antibodies IgA as well as celiac associated HLA-DQ alpha 1 and DQ beta 1 medium high-resolution DNA typing. The goal of any tests for celiac disease risk is to identify if a biopsy is required, which is the gold standard for celiac disease diagnosis in the United States.
In other cases, uncommon symptoms may actually be the dominant ones presenting in clinical practice. They were for me and contributed in my more than a decade to diagnosis. Referencing the aforementioned work by McCormick, Assiri, Zipser and their respective colleagues, not all health care practitioners may be aware of all the associated symptomatology. Take a look at an example of classic symptoms and non-classic symptoms and manifestations below.
|Classic Symptoms and Manifestations||Non-Classic Symptoms and Manifestations||Pediatric Presentation (>2 and <15)||Pediatric Population <2|
|Abdominal Pain (particularly post prandial)||Alopecia||Abdominal Distension||Failure to Thrive|
|Diarrhea||Aphthous Ulcers/Stomatitis||Short Stature|
|Dermatitis Herpetiformis||Asymptomatic||Thin Extremities|
|Down’s and Turner’s Syndrome||Ataxia|
|Edema (hypoproteinemia)||Cognitive Impairment|
|Iron Deficiency / Anemia||Delayed Onset of Puberty / Delayed Menarche|
|Severe Itchy Rash||Dental Defects / Enamel Defects|
|Fertility Problems (male and female)|
|Heartburn / GERD|
|Nutritional Deficiencies (B12, Folate, Zinc, Vitamins A, D, E, K, etc.)|
|Refractory Vitamin D Deficiency|
|Urinary Stone Disease|
|Asthma of unknown cause|
|Gastrointestinal inflammation (Ulcerative colitis, Crohn’s disease can be causes)|
|Upper respiratory tract infections|
Incomplete or incorrect medical decision-making and my personal experience was the catalyst for my work in enhancing diagnostic knowledge and the understanding of the symptomatology, culminating in the creation, study and publication of a clinical decision-making expert system for celiac disease assessment.
Regarding treatment being a life-long gluten free diet, data collected by researchers from the pharmaceutical company Takeda and the Celiac Disease Foundation reported 74% of individuals with celiac disease claimed they were exposed to gluten within the past 30 days. If you really think about it that is not a shocking piece of information when gluten is omnipresent and cross contamination risk is so high. In 2010, Thompson and colleagues had twenty-two gluten free grains and seeds sent to a lab for gluten analysis. Seven of the products were contaminated with gluten. These products were considered gluten free by default because they are naturally gluten free and therefore were not labeled gluten free. Products studied included millet flour, millet grain, buckwheat, soy, brown rice, amaranth and flaxseed. These are gluten free foods by nature, but obviously gluten contamination occurred via processing. Strict gluten free labeling and testing is required to assure a product is gluten free.
Moreover, there are known current conditions and diseases that have been linked to celiac disease in multiple studies in peer-reviewed literature. Any of these diseases below should alert a physician to test for celiac disease risk.
It can take a village for a proper diagnosis to transpire. Celiac disease encompasses many different diseases, leaving signs to alert practitioners to start the diagnostic process. The Canadian Dental Association released a clinical diagnosis guide for dentists based on the oral manifestations of celiac disease, which include chronic dental carries, weak enamel and aphthous stomatitis, in an effort to screen patients for further testing. The American Journal of Clinical Dermatology published a guide for dermatologists to enhance the recognition of cutaneous manifestations of celiac disease, with dermatitis herpetiformis being the primary sign. Turco and colleagues noted an increase in anxiety and depression in children with celiac disease and functional intestinal disorders.
Due to the fact that celiac disease can present as a clinical chameleon, alter the microbiome, is implicated in other autoimmune diseases, and can present with signs and symptoms that will most likely be seen by many different specialists in health care, a focus on obtaining an accurate diagnosis is key. If all these specialists are up to date in their knowledge of the many ways celiac disease can present in clinical practice and linked together in a health care information system, and sharing data via an electronic health record, may create an environment for a more accurate and prompt diagnosis, and improved continuity of care.