Celiac Disease: Definition, Causes, Symptoms, Diagnosis, and Treatment Methods

Celiac disease is a genetic-based autoimmune disorder in which the body's immune system reacts abnormally to gluten, a protein found in the small intestine. Gluten is a protein found in grains such as wheat, barley, and rye. Celiac disease results in damage to the small intestine by gluten, leading to malabsorption of nutrients. This condition can cause various health problems in the long run.

Causes of Celiac Disease and Genetic Predisposition

The exact cause of celiac disease is not yet fully understood, but it is believed to be influenced by both genetic and environmental factors. Genetic predisposition plays a significant role in the development of the disease. A large majority of people with celiac disease have the HLA-DQ2 and HLA-DQ8 genetic profiles. These genes cause the immune system to react abnormally to harmless substances such as gluten.

In addition, environmental factors may trigger the disease. In particular, infections or changes in the gut microbiota during early life can contribute to the development of the disease. Moreover, celiac disease is often associated with other autoimmune disorders. For example, thyroid diseases, type 1 diabetes, and systemic lupus erythematosus are commonly seen alongside celiac disease.

Symptoms of Celiac Disease 

The symptoms of celiac disease can vary greatly from person to person. The severity of the disease, the person's age, and genetic makeup can all influence the symptoms. Some of the most common symptoms of celiac disease include:

• Abdominal pain and bloating: Patients may experience pain, gas, and bloating in their abdomen after consuming gluten-containing foods.
• Changes in stool: Diarrhea, constipation, or foul-smelling, fatty stools are common symptoms of celiac disease.
• Weight loss and growth retardation: Due to malabsorption of nutrients, especially in children, growth retardation and weight loss may occur.
• Fatigue and weakness: Long-term nutrient malabsorption can lead to energy loss, resulting in fatigue.
• Dermatitis herpetiformis: Some patients may develop itchy rashes, especially on their elbows, knees, and buttocks.
• Iron deficiency anemia: Malabsorption of nutrients in the intestine can lead to iron deficiency anemia, causing symptoms such as pallor, fatigue, and shortness of breath.

Diagnostic Methods  

The diagnosis of celiac disease is usually made in several stages:

• Serological tests: The first step in diagnosing celiac disease involves blood tests. These tests measure specific antibodies, such as anti-tTG (tissue transglutaminase) and anti-EMA (endomysial antibody). High levels of these antibodies indicate the presence of celiac disease.
• Endoscopic biopsy: If serological tests are positive, an intestinal biopsy is performed to confirm the diagnosis. During this procedure, a tissue sample is taken from the small intestine via endoscopy, and the villi in the intestine are examined under a microscope for any damage.
• Genetic tests: Genetic tests for HLA-DQ2 and HLA-DQ8 can also support the diagnosis of celiac disease. However, these tests alone do not confirm the disease, as these genes only indicate a risk for the disease and do not guarantee its presence.

Treatment of Celiac Disease  

The treatment of celiac disease involves lifelong dietary changes that are appropriate for the nature of the disease. The most important aspect of the treatment is the implementation of a gluten-free diet. All foods containing gluten must be completely avoided, as gluten causes inflammation and damage to the intestines.

Gluten-free diet:

• Fresh fruits and vegetables: These can be safely consumed as they do not contain gluten.
• Meat, fish, and eggs: These are naturally gluten-free, but processed products may contain gluten, so caution is required.
• Gluten-free flours and breads: Alternatives like corn flour, rice flour, and potato flour can be used instead of wheat flour.

Additional treatment options:

• Vitamin and mineral supplements: Due to impaired nutrient absorption, celiac patients may be advised to take supplements for iron, calcium, folic acid, and vitamin B12.
• Medication: In cases where the patient does not improve despite dietary changes, some immunosuppressive drugs may be used. However, this treatment is usually applied alongside the gluten-free diet as a supportive measure.
• Psychological support: Especially for children and adolescents, following a lifelong gluten-free diet can be challenging. Therefore, psychological support is important in the treatment process.

Complications Associated with Celiac Disease  

If left untreated, celiac disease can lead to various complications. Some of these include:

• Osteoporosis: The difficulties in nutrient absorption can lead to calcium deficiency in the bones, increasing the risk of osteoporosis.
• Iron deficiency anemia: The impaired absorption of iron in the intestines can cause iron deficiency anemia.
• Cancer: Long-term untreated celiac disease can increase the risk of cancer in the small intestine, particularly intestinal cancer and enteropathic T-cell lymphoma.

Conclusion and Recommendations  

Celiac disease is a serious autoimmune disorder, but with correct diagnosis and treatment, patients can lead healthy lives. A gluten-free diet is the most effective method for managing the disease. Patients must strictly avoid gluten-containing foods and follow the recommendations of healthcare professionals. Additionally, increasing public awareness of celiac disease will help ensure early diagnosis and prompt treatment.

Spc. Dr. Hasan Gürel
Gastroenterology Specialist