Celiac sprue, now more commonly known as celiac disease, is a serious autoimmune disorder that occurs in genetically predisposed people where the ingestion of gluten leads to damage in the small intestine. Gluten is a protein found in wheat, barley, and rye. When people with celiac disease eat gluten, their immune system reacts by attacking the villi, the small, finger-like projections that line the small intestine and are responsible for absorbing nutrients. Damage to the villi impairs the body’s ability to absorb nutrients, leading to malnutrition and a wide range of symptoms affecting various body systems. It is a lifelong condition requiring a strict gluten-free diet.
Causes:
Celiac disease is an autoimmune condition triggered by gluten ingestion in genetically susceptible individuals. It is not an allergy, but rather an immune response that damages the small intestine.
- 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.
Symptoms:
Symptoms of celiac disease can vary greatly among individuals and can affect both the digestive system and other parts of the body. Some people, particularly adults, may have celiac disease without any digestive symptoms.
- 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.
Diagnosis:
Diagnosing celiac disease requires a combination of blood tests and an endoscopy with biopsy. It’s crucial not to start a gluten-free diet before testing, as this can affect results.
- 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.
Treatment:
The only treatment for celiac disease is a strict, lifelong gluten-free diet. Adherence to this diet allows the small intestine to heal and symptoms to resolve.
- 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.
With strict adherence to a gluten-free diet, the small intestine can heal, and most people with celiac disease experience significant improvement in symptoms and overall health.
