Celiac Disease: Symptoms, Diagnosis, and Treatment

Celiac disease is an autoimmune disorder where the body’s immune system mistakenly attacks its own tissues, triggered by consuming gluten. Unlike a food allergy or intolerance, it is a serious genetic condition that can lead to long-term health complications if not properly managed.

What Celiac Disease Is

Celiac disease involves an autoimmune response that primarily targets the small intestine. When individuals with this genetic predisposition consume gluten, their immune system damages the villi, small, finger-like projections lining the small intestine. These villi absorb nutrients from food.

Gluten is a protein present in wheat, barley, and rye. Its consumption by someone with celiac disease initiates an inflammatory process, leading to the flattening and destruction of the villi. This damage compromises the small intestine’s ability to absorb essential vitamins, minerals, and other nutrients. Impaired nutrient absorption can result in various health issues. Genetic markers, specifically HLA-DQ2 and HLA-DQ8 genes, are present in nearly all individuals diagnosed with celiac disease, indicating a strong genetic predisposition.

Common Signs and Symptoms

Celiac disease symptoms are diverse and vary among individuals. Many experience digestive symptoms, including chronic diarrhea, constipation, bloating, and abdominal pain. Unexplained weight loss can also occur due to malabsorption.

Beyond digestive issues, celiac disease can present with non-digestive symptoms. These may include:
Persistent fatigue
Iron-deficiency anemia unresponsive to supplements
Joint pain
A characteristic itchy, blistering skin rash known as dermatitis herpetiformis
Neurological problems, such as peripheral neuropathy or “brain fog”
Dental enamel defects
Osteoporosis due to poor calcium absorption
Fertility problems and recurrent miscarriages (in some cases)

Getting a Diagnosis

Diagnosing celiac disease begins with blood tests that screen for antibodies. The most common initial test measures tissue transglutaminase IgA (tTG-IgA) antibodies. Other antibody tests, such as endomysial antibodies (EMA) and deamidated gliadin peptide (DGP) antibodies, may also be used. These blood tests must be performed while the individual is still consuming gluten, as removing gluten before testing can lead to false-negative results.

Following positive blood test results, a definitive diagnosis requires an endoscopy with a small intestinal biopsy. During this procedure, a thin, flexible tube with a camera is inserted to examine the small intestine and collect tissue samples. These samples are examined under a microscope to confirm villous atrophy, indicating damage to the villi. A gastroenterologist oversees this diagnostic process and provides ongoing management.

Embracing a Gluten-Free Lifestyle

The only effective treatment for celiac disease is strict, lifelong adherence to a gluten-free diet. This means completely eliminating all foods containing wheat, barley, rye, and their derivatives, such as malt and triticale. Even small amounts of gluten can trigger an immune response and cause intestinal damage.

Many foods are naturally gluten-free and form the foundation of this diet, including:
Fresh fruits
Vegetables
Lean meats, fish, poultry
Most dairy products
Rice, corn, quinoa, and potatoes

Careful attention to food labels is important, as gluten can be found in unexpected sources like sauces, dressings, processed meats, and some medications or supplements. Avoiding hidden gluten sources is a continuous learning process.

Cross-contamination is a concern, occurring when gluten-free foods contact gluten-containing foods or surfaces. This can happen in shared kitchens, restaurants, or food manufacturing facilities. Using separate cutting boards, toasters, and cooking utensils helps minimize this risk at home. Consulting with a registered dietitian specializing in celiac disease is highly recommended for personalized guidance. Consistent adherence to the gluten-free diet allows the small intestine to heal, leading to symptom improvement and a reduced risk of long-term complications.

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