- Genetic Predisposition:
- Celiac disease is only developed by people who carry certain genes, primarily HLA-DQ2 and HLA-DQ8. However, carrying these genes does not guarantee development of the disease, as they are common in the general population.
- If a close relative (parent, sibling, child) has celiac disease, your risk is significantly higher.
- Gluten Ingestion:
- Exposure to gluten (found in wheat, barley, rye) is the trigger for the autoimmune reaction.
- The immune system mistakenly identifies gluten as a threat and mounts an attack on the small intestine lining.
- Environmental Factors (Possible Triggers):
- Infant Feeding Practices: Some research suggests that the timing of gluten introduction to infants, particularly too early or too late, may influence risk, but this is not conclusive.
- Viral Infections: Some studies suggest that certain viral infections might play a role in triggering celiac disease in genetically susceptible individuals.
- Other Factors: Stress, surgery, pregnancy, or childbirth are sometimes reported as triggers for symptom onset in predisposed individuals.
- Associated Conditions (Increased Risk):
- Type 1 Diabetes.
- Autoimmune Thyroid Disease (e.g., Hashimoto's thyroiditis).
- Autoimmune Liver Disease.
- Down Syndrome.
- Turner Syndrome.
- Selective IgA Deficiency.
- Microscopic Colitis.
- Digestive Symptoms (More common in children):
- Diarrhea (often chronic, watery, or fatty/foul-smelling).
- Abdominal pain and bloating.
- Gas.
- Nausea and vomiting.
- Constipation (can occur in some cases).
- Weight loss or failure to thrive (in children).
- Non-Digestive Symptoms (More common in adults):
- Fatigue.
- Anemia: Often iron-deficiency anemia, due to poor iron absorption.
- Bone or Joint Pain.
- Osteoporosis or Osteopenia: Due to poor calcium and vitamin D absorption.
- Nerve Damage (Neuropathy): Numbness, tingling, or pain in hands and feet.
- Dermatitis Herpetiformis: An itchy, blistering skin rash, typically on elbows, knees, buttocks, and scalp. (Specific to celiac disease).
- Mouth Ulcers (Canker Sores).
- Dental Enamel Defects.
- Headaches.
- Reproductive Problems: Infertility, recurrent miscarriage.
- Depression and Anxiety.
- Seizures: (Rare) can be associated with cerebral calcifications.
- Hyposplenism: Reduced function of the spleen.
- Blood Tests (to screen for celiac disease):
- Tissue Transglutaminase IgA (tTG-IgA) Antibody: The most sensitive and specific blood test for celiac disease.
- Endomysial IgA (EMA-IgA) Antibody: Another highly specific test.
- Deamidated Gliadin Peptide IgA (DGP-IgA) or IgG (DGP-IgG) Antibody: Useful for those with IgA deficiency or in children.
- Total Serum IgA: Measured to ensure IgA deficiency isn't causing a false-negative tTG-IgA result.
- Genetic Testing (HLA-DQ2 and HLA-DQ8):
- Used to rule out celiac disease. If a person does not carry these genes, they cannot develop celiac disease.
- It does not diagnose celiac disease, as many people with these genes do not develop the condition.
- Endoscopy with Biopsy (to confirm diagnosis):
- Considered the gold standard for diagnosis.
- A thin, flexible tube with a camera is inserted down the throat into the small intestine.
- Multiple tiny tissue samples (biopsies) are taken from the small intestine to check for characteristic damage to the villi (villous atrophy, crypt hyperplasia).
- Response to Gluten-Free Diet: Improvement in symptoms after adopting a strict gluten-free diet often supports the diagnosis, especially if confirmed by biopsy.
- Strict Gluten-Free Diet:
- Avoid all foods containing wheat, barley, and rye. This includes most breads, pastas, cereals, baked goods, beer, and many processed foods.
- Careful label reading: Gluten can be hidden in many ingredients and additives.
- Beware of Cross-Contamination: Even small amounts of gluten can cause damage. Use separate toasters, cutting boards, and cooking utensils.
- Nutritional Support:
- Vitamin and Mineral Supplements: To correct deficiencies caused by malabsorption (e.g., iron, calcium, vitamin D, folic acid, B vitamins).
- Dietitian Consultation: Working with a registered dietitian specializing in celiac disease is crucial to learn about the gluten-free diet, ensure adequate nutrition, and identify hidden sources of gluten.
- Medications (for specific complications):
- Corticosteroids: May be used in severe cases of refractory celiac disease (where the intestine doesn't heal despite a strict gluten-free diet) to suppress the immune response.
- Dermatitis Herpetiformis Treatment: Dapsone may be prescribed to control the rash, in addition to the gluten-free diet.
- Monitoring:
- Regular follow-up with a doctor and dietitian is important to monitor symptoms, nutrient levels, bone density, and ensure continued adherence to the gluten-free diet.
- Repeat blood tests (e.g., tTG-IgA) can help monitor intestinal healing.