Everyday foods containing gluten can harm millions of individuals with undiagnosed celiac disease or gluten sensitivity, leading to significant health issues that often go unrecognized. Identifying the signs and pursuing appropriate testing is essential for restoring health and preventing complications.

Table of Contents:
1. What is Celiac Disease and when should testing be considered
Symptoms and Clinical Presentation
Risk Groups and When to Test
Diagnosis
Long-Term Consequences
2. About Test
3. Why Testing is Important
4. Preparing for the Test
5. Benefits of the Test
About me
I am Adriano dos Santos, BSc, AFMCP, MBOG, NWP, RSM, ESIM, a Functional Registered Nutritionist, specializing in nutritional therapy for patients with metabolic syndrome, particularly those suffering from digestive issues and sleep disturbances.
Introduction
Celiac disease, a chronic autoimmune condition triggered by gluten, often goes undiagnosed due to its diverse symptoms, ranging from digestive issues to fatigue and even neurological complications. Studies estimate that about 1% of the global population has celiac disease, but up to 80% of cases remain undiagnosed (Fasano A., et al 2003).
Left untreated, it can lead to serious long-term consequences, including nutritional deficiencies and increased risk of malignancies. Early identification and proper testing are critical steps toward reclaiming health and preventing long-term complications.
What is Celiac Disease and when should testing be considered?

Celiac disease is a chronic autoimmune disorder triggered by gluten ingestion in genetically predisposed individuals. It leads to inflammation and damage to the small intestinal mucosa, primarily affecting the villi.
This villous atrophy results in malabsorption of nutrients, which can cause symptoms like diarrhea, weight loss, and fatigue. Gluten ingestion leads to an abnormal immune response, resulting in damage to the small intestinal mucosa, characterized by villous atrophy, crypt hyperplasia, and increased intraepithelial lymphocytes (Lebwohl B., et all, 2017).
Symptoms and Clinical Presentation
The clinical presentation of celiac disease varies widely and can include both gastrointestinal (GI) and extraintestinal symptoms:
GI symptoms: Chronic diarrhea, abdominal pain, bloating, nausea, and weight loss. In children, failure to thrive and delayed puberty are common indicators.
Extraintestinal symptoms: Fatigue, unexplained iron-deficiency anemia, osteoporosis, dermatitis herpetiformis (a blistering skin rash), neurological symptoms (e.g., peripheral neuropathy and ataxia), infertility, and liver dysfunction.
Risk Groups and When to Test
Testing for celiac disease is recommended in:
Individuals with classic GI symptoms.
Patients with conditions such as type 1 diabetes, autoimmune thyroid disease, Down syndrome, or Turner syndrome, as they are at increased risk.
First-degree relatives of individuals diagnosed with celiac disease.
Those with unexplained symptoms like iron-deficiency anemia, fatigue, osteoporosis, or neurological abnormalities.
Diagnosis
The diagnostic process includes:
Serological testing:
Anti-tissue transglutaminase IgA (tTG-IgA) is the primary screening test.
Total serum IgA levels should also be checked to rule out IgA deficiency.
For patients with IgA deficiency, IgG-based tests (e.g., anti-deamidated gliadin peptide IgG) are used.
Intestinal biopsy: Positive serological results are confirmed through duodenal biopsy, where histological changes such as villous atrophy and crypt hyperplasia are observed.
HLA testing: While not diagnostic, HLA-DQ2/DQ8 testing can help exclude celiac disease in uncertain cases, as the absence of these haplotypes makes the disease very unlikely (Ludvigsson et al., 2014).
Long-Term Consequences
If left untreated, celiac disease can lead to serious complications, including:
Nutritional deficiencies: Iron, calcium, and vitamin D deficiencies leading to anemia and osteoporosis.
Refractory celiac disease: A rare condition where symptoms persist despite a gluten-free diet.
Increased risk of malignancies: Such as enteropathy-associated T-cell lymphoma (EATL) and small bowel adenocarcinoma.
Neurological complications: Such as gluten ataxia and peripheral neuropathy.
About Test
Collaborating with Genova Diagnostics, I recommend the Celiac Profile, a specialized diagnostic tool designed to evaluate potential gluten-related disorders, including celiac disease, gluten sensitivity, and associated autoimmune responses.
This profile evaluates a range of biomarkers, offering a comprehensive view of gluten's impact on the body. These include markers of gluten sensitivity, intestinal inflammation, and antibody levels indicative of celiac disease.
This testing is particularly important for individuals experiencing symptoms like chronic diarrhea, abdominal pain, bloating, fatigue, or unexplained nutrient deficiencies, as well as those with a family history of celiac disease or other autoimmune conditions.
Why Testing is Important
Accurate diagnosis is vital because untreated celiac disease can lead to severe complications such as malabsorption, chronic inflammation, damage to the small intestine, and the development of additional autoimmune disorders.
The Celiac Profile enables early identification and intervention, helping individuals avoid these long-term health issues and providing clarity for those struggling with persistent, unexplained symptoms.
Preparing for the Test
To ensure accurate results, individuals must follow specific preparation guidelines before the test.
Most importantly, the individual should continue consuming a gluten-containing diet for several weeks leading up to testing. This is critical because eliminating gluten prematurely can lead to false-negative results by suppressing the immune response that the test is designed to detect. Adherence to these preparation steps ensures the validity of the results and supports accurate diagnosis.
Benefits of the Test
By identifying the underlying cause of symptoms, the Celiac Profile empowers patients and healthcare providers to make informed decisions about dietary adjustments and medical management. A clear diagnosis facilitates personalized treatment plans, such as adopting a gluten-free diet or addressing any nutritional deficiencies caused by gluten-related intestinal damage.
This comprehensive approach not only alleviates symptoms but also helps prevent long-term complications, significantly improving the patient’s quality of life.
Conclusion
Accurate diagnosis of celiac disease is vital for addressing its health impacts and preventing complications. Advanced testing like the Celiac Profile enables informed steps to manage symptoms and improve quality of life.
References
Fasano A., Berti I., Gerarduzzi T., Not T., Colletti R., Drago S., Elitsur Y., Green P., Guandalini S., Hill I., Pietzak M., Ventura A., Thorpe M., Kryszak D., Fornaroli F., Wasserman S., Murray J., Horvath K. (2003). Prevalence of celiac disease in at-risk and not-at-risk groups in the United States: a large multicenter study. PubMed PMID: 12578508 DOI: 10.1001/archinte.163.3.286
Ludvigsson J. F., Bai J. C., Biagi F., Card T. R., Ciacci C., Ciclitira P. J., Green P. H., Hadjivassiliou M., Holdoway A., van Heel D. A., Kaukinen K., Leffler D. A., Leonard J. N., Lundin K. E., Murray J. A., Swift G. L., Walker M. M., Zingone F., Sanders D. S. (2014).Diagnosis and management of adult coeliac disease: Guidelines from the British Society of Gastroenterology. Gut, 63(8), 1210-1218. DOI: 10.1136/gutjnl-2020-319902
Lebwohl B., Sanders D. S., Green P. H. (2017). Coeliac disease. The Lancet, 391(10115), 70-81 DOI: 10.1016/S0140-6736(17)31796-8
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