Celiac disease

Disease Description (Causes and Symptoms)

• Causes and pathophysiology: This is an autoimmune disease in which an immune response to gluten (proteins in wheat, barley, and rye) is triggered in people with a genetic predisposition (carrying HLA‑DQ2 or HLA‑DQ8), causing inflammatory damage to the villi of the small-intestinal epithelium and resulting in malabsorption.
• Main symptoms: Chronic diarrhea (including steatorrhea), abdominal bloating and pain, weight loss, nutritional deficiencies (anemia, vitamin deficiencies), growth delay (in children), fatigue and depression, infertility and irregular menstruation, skin rash (vesicular herpetiform rash/dermatitis herpetiformis), peripheral neurological symptoms (tingling), and increased risk of osteoporosis.
• Onset: Symptoms may begin in infancy, but the disease may also first manifest in adulthood. Infections, pregnancy, surgery, and severe stress may trigger its onset.

Treatment

• First-line treatment: A strict lifelong gluten-free diet (Gluten‑free diet, GFD) — wheat, barley, and rye (pure oats may be allowed, but beware of cross-contamination). Preventing cross-contamination and checking labels are essential.
• Nutritional supplementation: Supplement iron, folate, vitamin B12, vitamin D, calcium, fat-soluble vitamins, and other nutrients according to the deficiencies present. Consultation with a dietitian is recommended.
• Drug treatment: The condition generally improves with a GFD, but in severe inflammatory forms, acute exacerbations, or refractory celiac disease, local or systemic steroids (e.g., budesonide) or immunosuppressants (such as azathioprine) may be considered. In refractory disease (especially type II), consultation with a hematologist-oncologist and anticancer treatment may be necessary.
• Follow-up: Follow symptoms and serum antibodies (such as tTG IgA), perform nutritional testing (iron and vitamin levels), and conduct bone mineral density testing (due to the risk of osteoporosis). If there is no response to treatment, reassessment with small-intestinal endoscopy and biopsy may be performed.
• Complication prevention and precautions: If untreated, there is an increased risk of nutritional deficiencies, osteoporosis, infertility, neurological complications, coexisting autoimmune diseases, and small-intestinal non-Hodgkin lymphoma. Be alert to hidden gluten in medications, foods, cosmetics, and prescription drug ingredients. If necessary, assess for hyposplenism (infection risk) and consider preventive vaccination.

Checklist Before an Outpatient Visit (Including Suggested Items to Bring and Questions)

Items to bring (recommended)

• A list of current medications and supplements
• Previous test results (blood tests, tTG/EMA/DGP antibody results, total IgA, and findings from previous upper gastrointestinal endoscopy/biopsy)
• A record of weight changes and symptoms (frequency/character of diarrhea, abdominal pain, fatigue, skin rash, etc.)
• Dietary history (whether gluten was recently consumed, duration of any gluten-free diet trial, and whether a dietitian was consulted)
• Family history (autoimmune diseases, celiac disease, etc.)

Information to tell the doctor in advance (examples)

• Changes in symptoms over the past few weeks/months (improvement/worsening)
• How strictly you have followed a gluten-free diet
• Whether you take supplements or over-the-counter medications (especially iron preparations and vitamins)

Tests that may be performed during an outpatient visit (for reference)

• Serum tTG IgA, EMA, and DGP tests and total IgA (especially to check for IgA deficiency)
• Basic blood tests (anemia, iron, and vitamin levels) and metabolic tests
• If necessary, upper gastrointestinal endoscopy with small-intestinal biopsy (histological confirmation)

General Examples of Questions to Ask the Doctor

• What is the standard treatment for this disease? How long do I need to follow the diet?
• What common side effects or precautions should I be aware of during treatment?
• Which items should be included in regular follow-up tests, and at what intervals should they be performed?
• How should nutritional deficiencies (e.g., anemia and osteoporosis) be managed?
• What effects does this disease have on pregnancy, childbirth, and breastfeeding?

Examples of Disease-Specific Questions

• My tTG IgA test is negative, but celiac disease is still suspected. Do I need testing for total IgA deficiency, DGP IgG, or HLA‑DQ2/DQ8?
• My symptoms persist even after starting a gluten-free diet. How is the possibility of “refractory celiac” evaluated, and what are the next steps (medication, repeat biopsy, etc.)?