Historically, inconclusive testing results for celiac disease using antibodies and biopsy for diagnosis left physicians assuming a negative result. Patients without answers or relief of their symptoms can feel frustrated by the lack of clarity offered by this classic testing process and often continue to suffer without a diagnosis. Before the important addition of potential celiac disease as a diagnosis, delays in the diagnosis of the disease, sometimes for years, resulted in avoidable intestinal damage, anemia, and nutritional deficiencies for many patients.
For physicians, patients showing positive antibodies and negative biopsy results, and vice versa, pose a frustrating puzzle that usually requires many hours of follow-up and repeated testing. Comprehensive 3-in-1 celiac disease testing that includes genetic markers HLA-DQ2/HLA-DQ8 with antibody and biopsy results helps to unblur the gray areas in celiac disease diagnosis.
As diagnosis methods continue to improve, and symptomatic people become aware of the possibility of celiac disease, more studies show the prevalence of non-classic symptoms and test results in people subsequently diagnosed with celiac disease. By gaining more understanding of the more prevalent subtypes and presentations of the disease, we can reduce diagnosis time, and in turn, minimize celiac damage before diagnosis.
Although many diagnoses of celiac disease still feature classic GI signs and symptoms along with positive antibodies and biopsy results, a good amount of cases pose diagnostic puzzles with borderline results and an increase in non-classic presentation of symptoms. More cases involving non GI symptoms and non-classic GI symptoms like constipation are becoming more frequently reported.
Some patients show signs of villous atrophy at biopsy without a positive antibody test. Although in the past biopsy results alone were considered a gold standard of diagnosis, there are other conditions in which villous atrophy occurs. Negative antibody results are not uncommon and patients who suspect they have celiac disease are prone to begin a gluten-free diet before recommendations to do so, affecting the results.
Patients with positive antibody results and negative biopsy findings fall into the diagnosis of potential celiac disease. A major problem with holding biopsy results as the gold standard in celiac disease testing is that we look for intestinal damage rather than seeking to prevent it. Every patient with celiac disease has active disease before villous atrophy is detectable. By relying solely on the appearance of intestinal damage for diagnosis, we ignore patient symptoms and allow disease progression.
Relying upon biopsy findings of villous atrophy is no longer considered the gold standard for celiac disease diagnosis. With the availability of antibody testing, biopsy, patient history of symptoms, and genetic testing, diagnosis is more accurate and much faster by taking a comprehensive approach to testing.
With CeliacDx comprehensive testing, antibody, biopsy, and genetic testing can be completed and sent to the lab at the same time, and an accurate diagnosis with recommendations can be delivered within the same report. Made with office efficiency and convenience in mind, CeliacDx testing kits provide everything you need in the package for antibody, biopsy, and DNA testing samples to be processed together.
The new gold standard in celiac disease testing is to use all available testing procedures to make a diagnosis1. Without making full use of these opportunities, we allow more patients to remain in the gray area of suffering symptoms for longer.
By having a patient complete full comprehensive celiac disease testing when the diagnosis is suspected, both patients and physicians can benefit from the streamlined process. Benefits of completing CeliacDx testing include:
The all-in-one comprehensive CeliacDX testing provides a convenient 3-in-1 testing kit, diagnosis, and recommendations report from the lab, saving physicians an enormous amount of time evaluating the results. After results from a CeliacDX report, diagnosis can be made quickly without increasing chart study time.
For tests that return negative results for potential celiac disease, physicians can investigate other avenues of diagnosis immediately, saving time for both physician and patient.
Most physicians would love the gift of time to analyze each test result to its fullest, but working within a system where thinking time is almost considered “downtime”, practicing conditions do not always allow for such in-depth clinical study of each chart.
By taking advantage of the comprehensive CeliacDx testing and pathologist analysis of the patient information and results from all three completed tests, physicians can be sure of the accuracy of the results and recommendations given.
Patients diagnosed with potential celiac disease due to positive antibodies and genetic risk factors can benefit from implementing a gluten-free diet, preventing intestinal damage before it occurs.
Without monitoring over time, patients with potential celiac disease can unknowingly cause harm to their health, believing their results to be negative and continuing to consume an unmonitored gluten diet.
The patients who end up lost in the wind with inconclusive results can go on to experience symptoms of nutrient deficiencies, anemia, and villous atrophy damage over the years following a confusing analysis.
Keeping patients with potential celiac disease within the fold to monitor their celiac disease development prevents avoidable damage in the future and minimizes false negative results.
With CeliacDx, the ability to complete three tests simultaneously and receive one comprehensive report reduces office visits and waiting times for patients. Whether they receive a positive, negative, or potential celiac disease diagnosis, patients feel more satisfied when they experience progress.
Many patients who receive seemingly inconclusive results from positive antibodies and negative biopsy findings feel dismissed by their physicians with no further investigation into their symptoms or more confused than when they began the process.
By investigating a suspected celiac disease diagnosis comprehensively, including genetic testing, patients feel more positive about their experience and confident that reaching a diagnosis is important to the physician.
For patients with positive antibody testing, positive genetic testing, and negative biopsy results, the diagnosis of potential celiac disease can provide a roadmap to health for symptomatic patients and guidance for the following of the asymptomatic patients.
For most cases benefiting from a comprehensive celiac disease test, the investigation comes following a patient reporting symptoms. For symptomatic patients diagnosed with potential celiac disease, beginning a gluten-free diet is recommended.
Recommendations for an asymptomatic patient with potential celiac disease are usually not to follow a gluten-free diet. Instead, follow up every six months with history and blood results to watch for any disease development.2 In practice, most patients seeking testing for celiac disease have some symptomatic concerns and may wish to begin a gluten-free diet following a positive test for potential celiac disease.
Comprehensive celiac disease testing that includes genetic markers can provide a vital piece of the diagnostic puzzle by removing the likelihood of celiac disease as a diagnosis. Clearing up confusion from the inconclusive gray area to rule out the disease is an important step in speeding up the diagnosis of a patient’s symptoms.
Upon diagnosis of potential celiac disease, and in some cases beginning a gluten-free diet, a patient needs to follow up regularly to ensure that their symptoms and any intestinal damage are improving.
A patient with celiac disease may feel symptom relief after beginning a gluten-free diet, but following up to ensure no comorbidities exist is vital to restoring full health.
Genetic testing for celiac disease markers supplies patients with more than just answers surrounding their symptoms. The genetic component of comprehensive CeliacDX testing shows the specific markers that a patient carries and their hereditary risk of both developing the disease during their lives and passing the genes down to their children. This information can prove invaluable to parents when considering their children’s symptoms in the future, potentially accelerating diagnosis and minimizing damage to their health.
With the availability of multi-modal testing, the gold standards in diagnosis shifting, and a greater awareness in the public of celiac disease symptoms, comprehensive celiac disease testing is currently the most accurate and effective way to a diagnosis. With easy to use kits, and physician-schedule friendly reports, CeliacDx provides a fast and efficient way to confirm or rule out a diagnosis of potential celiac disease.
References
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CeliacDx provides test kits for the collection of genetic samples from patients in order to identify Celiac disease risk. None of the tests are meant to be a substitute for seeking professional medical advice, help, diagnosis, or treatment. The information on this website is for educational purposes only. Always seek the advice of your physician or other qualified healthcare provider with any questions you may have regarding a medical condition or treatment. Your use of the information on this website does not establish any patient-client relationship with any of the site’s creators. Users of this website assume the risk of acting upon any of the educational content that is provided.
