Gluten-sensitive enteropathy

Gluten-sensitive enteropathy, also known as celiac disease, is a chronic autoimmune disorder that primarily affects the small intestine. It occurs in genetically predisposed individuals and results from an adverse reaction to gluten, a group of proteins found in wheat, barley, and rye. The ingestion of gluten leads to damage in the small intestine, impairing nutrient absorption and leading to various clinical manifestations.

Etiology and Pathogenesis

The exact cause of gluten-sensitive enteropathy is complex and involves a combination of genetic, environmental, and immunological factors. The main genetic components are the human leukocyte antigen (HLA) class II genes, specifically HLA-DQ2 and HLA-DQ8, which are present in the majority of patients with the disease. Environmental factors include the introduction and amount of gluten in the diet. Immunologically, the ingestion of gluten leads to an inappropriate immune response, characterized by the production of several autoantibodies, including anti-tissue transglutaminase antibodies, which are diagnostic of the condition.

Clinical Manifestations

Symptoms of gluten-sensitive enteropathy can vary widely among individuals and may include gastrointestinal manifestations such as diarrhea, abdominal pain, and bloating, as well as extraintestinal symptoms like anemia, osteoporosis, neurological disorders, and dermatitis herpetiformis. The variability of symptoms often leads to delays in diagnosis.

Diagnosis

The diagnosis of gluten-sensitive enteropathy is based on a combination of clinical presentation, serological tests for specific antibodies (anti-tissue transglutaminase and anti-endomysial antibodies), and the histological examination of a small intestine biopsy. Genetic testing for HLA-DQ2 and HLA-DQ8 can support the diagnosis, especially in cases where the diagnosis is uncertain.

Treatment

The mainstay of treatment for gluten-sensitive enteropathy is a strict lifelong gluten-free diet, which leads to the healing of the intestinal mucosa, resolution of symptoms, and decrease in the risk of developing associated complications. Patients are often referred to a dietitian experienced in managing gluten-free diets.

Complications

Untreated or inadequately treated gluten-sensitive enteropathy can lead to various complications, including malnutrition, reduced bone density, infertility, certain types of cancer (such as intestinal lymphoma), and an increased risk of other autoimmune diseases.

Epidemiology

Gluten-sensitive enteropathy affects individuals worldwide, with prevalence rates varying by region. It is more common in individuals of European descent and in females. The condition can present at any age, from infancy to adulthood.

Conclusion

Gluten-sensitive enteropathy is a significant medical condition that requires a high index of suspicion for diagnosis, especially in patients with atypical symptoms. A gluten-free diet remains the cornerstone of management, necessitating patient education and regular follow-up to ensure dietary adherence and to monitor for potential complications.