Overview
Celiac disease is an autoimmune disease in which the immune system damages the small intestine when gluten is consumed. Gluten is a protein found in wheat, barley, and rye. It has a prevalence of about 1/100 in our country; most patients are undiagnosed.
Damage to the villi on the inner surface of the small intestine leads to nutrient malabsorption. The only treatment is a lifelong gluten-free diet.
Symptoms
Highly variable; some patients may have no symptoms.
Digestive:
- Chronic diarrhea (sometimes constipation)
- Bloating, gas
- Abdominal pain
- Nausea, vomiting
- Unexplained weight loss
- Fatty, foul-smelling stools
Non-digestive:
- Iron deficiency anemia
- Weakness, fatigue
- Bone and joint pain
- Osteoporosis
- Skin rash (dermatitis herpetiformis)
- Mouth sores
- Dental enamel problems
- Headache
- Brain fog, difficulty concentrating
- Depression, anxiety
- Peripheral neuropathy
- Infertility, recurrent miscarriages
- Growth delay in children
Causes
Celiac disease is an autoimmune response triggered by gluten in genetically predisposed individuals (HLA-DQ2, DQ8 genes). Not all carriers develop it.
Risk Factors
- Family history (10% risk in first-degree relatives)
- Other autoimmune diseases:
- Type 1 diabetes
- Autoimmune thyroid disease
- Autoimmune hepatitis
- Down syndrome
- Turner syndrome
- Williams syndrome
- Selective IgA deficiency
Complications (Untreated)
- Nutritional deficiency
- Iron, B12, folic acid deficiency
- Osteoporosis
- Infertility, miscarriage
- Lactose intolerance
- Other autoimmune diseases
- Small intestine lymphoma risk (long-term)
- Growth delay in children
- Liver problems
When to See a Doctor
- Unexplained chronic digestive symptoms (diarrhea, bloating more than 2 weeks)
- Iron deficiency anemia
- Unexplained weight loss
- Growth delay in a child
- Screening if family history exists
- Screening if you have an autoimmune disease
- Persistent fatigue
Diagnosis and Treatment
Diagnosis:
Important: Continue eating gluten before testing (otherwise false negative)
- Blood tests: tTG-IgA, EMA-IgA, DGP-IgA/IgG
- Genetic tests: HLA-DQ2, HLA-DQ8
- Endoscopy + small bowel biopsy (definitive diagnosis)
- Marsh classification (villus damage grade)
- Deficiency tests: iron, ferritin, B12, folic acid, vitamin D, calcium, zinc
- Bone density (osteoporosis screening)
Treatment:
Lifelong strict gluten-free diet (only effective treatment):
To avoid:
- Wheat (flour, bulgur, semolina, pasta, bread)
- Barley (beer)
- Rye
- Oats (may be contaminated; consume certified)
- All processed foods containing these
- Sauces, meat products
- Some medications, supplements
Can be consumed:
- Rice, corn, buckwheat, quinoa, amaranth
- Potatoes, legumes
- Vegetables, fruits
- Meat, fish, eggs, dairy products (pure)
- Certified gluten-free products
Other:
- Replacement of deficient vitamins and minerals
- Dietitian support
- Joining celiac associations/support groups
- Regular follow-up
- Screening of family members
Prevention and Lifestyle
Celiac disease cannot be prevented; however, attention to the following:
- Regular screening if family history exists
- Introducing gluten to infants between 4-12 months
- Strict adherence to diet if diagnosed
- Pay attention to cross-contamination (separate pots, boards)
- Read food labels carefully
- Request gluten-free menu at restaurants
- Inform your family
- Consult a pharmacist for medications and supplements
- Celiac support groups can help
- Symptoms improve in 6 months-2 years after diagnosis