Celiac Disease
What is Celiac Disease?
Celiac disease is a chronic autoimmune disorder triggered by gluten, a protein found in wheat, barley, and rye. In people with genetic predisposition, consuming gluten activates the immune system, damaging the villi of the small intestine. This leads to malabsorption of nutrients and a wide range of symptoms.
Celiac disease can appear at any age and may be silent, mild, or severe. If untreated, it can lead to long-term complications such as intestinal cancer, infertility, osteoporosis, and other autoimmune conditions.
Symptoms of Celiac Disease
Symptoms vary greatly between individuals and may be digestive, non-digestive, or even absent.
Gastrointestinal Symptoms
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Diarrhea (chronic, pale, foul-smelling, or fatty stools)
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Abdominal pain and bloating after meals
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Constipation, sometimes alternating with diarrhea
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Gas, indigestion, and cramping
Malabsorption-Related Symptoms
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Unexplained weight loss
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Iron-deficiency anemia → fatigue, weakness
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Vitamin and mineral deficiencies → osteoporosis, brittle bones
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Poor growth or delayed puberty in children
Skin and Dermatological Symptoms
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Dermatitis herpetiformis: itchy, blistering rash on elbows, knees, or buttocks
Neurological and Psychological Symptoms
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Frequent headaches and migraines
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Peripheral neuropathy (numbness, tingling in hands and feet)
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Mood disorders such as depression and anxiety
Reproductive and Hormonal Symptoms
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Menstrual irregularities
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Infertility and recurrent miscarriage
Other Symptoms
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Chronic fatigue not relieved by rest
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Dental enamel defects
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Joint pain and arthritis
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Elevated liver enzymes
Nutrient Malabsorption and Deficiencies
When villi are damaged, nutrient absorption is impaired. This often leads to deficiencies, including:
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Iron → anemia and fatigue
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Calcium and Vitamin D → osteoporosis and bone weakness
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Vitamin B12 and Folate → anemia, neurological problems
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Fat-soluble vitamins (A, D, E, K) → vision, skin, antioxidant, and clotting problems
Regular monitoring and supplementation may be needed until the intestine heals on a gluten-free diet.
Diagnosis of Celiac Disease
Diagnosis typically involves blood tests (serology), genetic testing, and small intestine biopsy.
Common Serologic Tests
| Test | Sensitivity | Specificity | Clinical Use |
|---|---|---|---|
| Total IgA | — | — | Screens for IgA deficiency |
| tTG IgA (Tissue Transglutaminase IgA) | 95–98% | 94–95% | First-line screening |
| EMA IgA (Endomysial Antibody IgA) | >90% | >95% | Confirms tTG IgA positivity |
| tTG IgG | ~86% | 95% | For IgA-deficient patients |
| DGP IgG (Deamidated Gliadin Peptide IgG) | ~93% | 98% | For IgA-deficient patients |
Key Diagnostic Notes
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A positive tTG IgA + EMA IgA → highly specific for celiac disease
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A biopsy of the small intestine remains the gold standard for confirmation
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Genetic markers (HLA-DQ2 and HLA-DQ8) can rule out the disease if absent, but cannot confirm it if present
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Patients on a gluten-free diet prior to testing may show false-negative results
Treatment of Celiac Disease
The only proven treatment is a lifelong gluten-free diet.
Core Management Steps
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Strict gluten-free diet: eliminate wheat, barley, and rye
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Nutritional supplementation: iron, calcium, vitamin D, B vitamins, if needed
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Follow-up care: periodic blood tests and possible biopsy to assess healing
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Dietitian support: avoid hidden gluten and cross-contamination, maintain balanced nutrition
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Education and support groups: practical help with label reading and lifestyle adjustments
Advanced Treatment (for rare refractory cases)
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Corticosteroids or immunosuppressants to control persistent inflammation
Risks of Untreated Celiac Disease
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Intestinal cancers
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Infertility and pregnancy complications
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Other autoimmune disorders (e.g., type 1 diabetes, thyroid disease)
Genetic Risk Factors
Almost all individuals with celiac disease carry HLA-DQ2 or HLA-DQ8 genetic markers. However:
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Their absence rules out celiac disease
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Their presence alone does not confirm diagnosis, since many healthy individuals also carry them
Key Takeaways
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Celiac disease is a serious autoimmune condition caused by gluten.
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Symptoms are diverse: digestive, neurological, dermatological, and reproductive.
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Blood tests and biopsy remain the gold standard for diagnosis.
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Gluten-free diet for life is the only effective treatment.
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Regular medical follow-up prevents complications.
References
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Rubio-Tapia A, Hill ID, Kelly CP, Calderwood AH, Murray JA. ACG clinical guidelines: diagnosis and management of celiac disease. Am J Gastroenterol. 2013.
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Husby S, Murray JA, Katzka DA. AGA Clinical Practice Update on Diagnosis and Monitoring of Celiac Disease. Gastroenterology. 2019.
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Bai JC, Ciacci C. World Gastroenterology Organisation global guidelines: celiac disease. J Clin Gastroenterol. 2017.
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Lebwohl B, Rubio-Tapia A. Epidemiology, Presentation, and Diagnosis of Celiac Disease. Gastroenterology. 2021.
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Penny HA, Raju SA, Sanders DS. Progress in the serology-based diagnosis of adult celiac disease. Expert Rev Gastroenterol Hepatol. 2020.
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Rubin JE, Crowe SE. Celiac Disease. Ann Intern Med. 2020.
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Biomarkers related to this condition:
Anti-gliadin IgA is an important antibody in the context of diagnosing celiac disease, an autoimmune disorder that affects the small intestine. When individuals with celiac disease consume gluten—a protein found in wheat, barley, and rye—
Learn moreAnti-gliadin IgG is an antibody that the immune system produces in response to gliadin, a component of gluten found in wheat, barley, and rye. When someone with a sensitivity to gluten consumes these grains, their immune system may mistakenly identif
Learn moreDetection of gliadin antibodies aids in the diagnosis and monitoring of certain gluten-sensitive enteropathies, such as celiac disease and dermatitis herpetiformis.
Learn moreDetection of gliadin antibodies aids in the diagnosis and monitoring of certain gluten-sensitive enteropathies, such as celiac disease and dermatitis herpetiformis.
Learn moreDGP IGA
The Deamidated Gliadin Peptide Immunoglobulin A (DGP IGA) marker plays a pivotal role in the celiac disease diagnostic process, offering unique insights that complement other testing methods in a celiac panel. This test specifically measures the IGA
Learn moreDQ2
Celiac disease is a chronic immune-mediated inflammatory disorder with multi-systemic manifestations, both gastrointestinal and nongastrointestinal. In genetically susceptible individuals, ingestion of gluten can cause inflammation and damage to the
Learn moreDQ8
Celiac disease is a chronic immune-mediated inflammatory disorder with multi-systemic manifestations, both gastrointestinal and nongastrointestinal. In genetically susceptible individuals, ingestion of gluten can cause inflammation and damage to the
Learn moreEndomysial Antibody IgA
This test looks for certain antibodies in your blood that may mean you have celiac disease, an autoimmune disease. Presence of the tissue transglutaminase (tTG) IgA antibody is associated with gluten-sensitive enteropathies such as celiac disease
Learn moreThe "Endomysial Antibody Screen (IgA) with Reflex to Titer" is a specific blood test often used to help diagnose celiac disease, an autoimmune disorder where the ingestion of gluten leads to damage in the small intestine. This test looks fo
Learn moreThe Endomysial Antibody Titer is a crucial diagnostic tool in the evaluation of celiac disease and related gluten-related disorders, aiding in early diagnosis and appropriate management.
Learn moreA tissue transglutaminase IgA (tTg-IgA) test is used to help doctors diagnose celiac disease or to see how well people with the condition are doing.
Learn moreA tissue transglutaminase IgA (tTg-IgA) test is used to help doctors diagnose celiac disease or to see how well people with the condition are doing.
Learn moreTTG IGA
The TTG IGA marker is a crucial element in the diagnostic process for celiac disease, offering a high degree of accuracy in identifying this autoimmune disorder. Tissue Transglutaminase (TTG) is an enzyme targeted by the immune system in celiac disea
Learn more