Journal of Clinical & Experimental Pathology
Open Access

A chronic autoimmune condition called celiac disease, or coeliac disease, is caused by an aberrant immune reaction to gluten, a protein present in wheat, barley, and rye. The immune system of those who have celiac disease attacks the lining of the small intestine, causing inflammation and harm to the villi, which are tiny projections that resemble fingers and are involved in the absorption of nutrients. If treatment is not received, this injury may lead to long-term issues as well as a variety of gastrointestinal complaints. Understanding the mechanisms and manifestations of celiac disease is crucial for effective management and improved quality of life for affected individuals. Celiac disease develops in genetically predisposed individuals, primarily those carrying the Human Leukocyte Antigen (HLA-DQ2 and HLA-DQ8) genes. These genes are responsible for encoding proteins that play a role in the immune system's response to gluten. When gluten is ingested, it triggers an immune reaction involving T-cells and antibodies, particularly tissue Transglutaminase (tTG) antibodies. This reaction leads to inflammation and damage to the intestinal mucosa, impairing nutrient absorption and causing various symptoms.

The clinical presentation of celiac disease can vary widely among individuals and may include gastrointestinal and extra-intestinal symptoms. Common gastrointestinal symptoms include abdominal pain, bloating, diarrhea, constipation, nausea, and vomiting. However, some individuals may experience atypical symptoms or have no gastrointestinal complaints at all. Extra-intestinal manifestations of celiac disease can involve multiple organ systems and include dermatitis herpetiformis (a skin rash), osteoporosis, joint pain, fatigue, anemia, infertility, and neurological symptoms such as headaches and peripheral neuropathy. Diagnosing celiac disease involves a combination of clinical evaluation, serological testing, and confirmation through intestinal biopsy. Initial screening typically involves blood tests to detect specific antibodies associated with celiac disease, such as anti-tissue Transglutaminase (tTG) antibodies and anti-Endomysial Antibodies (EMA). If these tests are positive, confirmation through endoscopic biopsy of the small intestine is usually performed to assess villous atrophy and other histological changes characteristic of celiac disease.

The primary treatment for celiac disease is strict adherence to a gluten-free diet. This involves eliminating all sources of gluten from the diet, including wheat, barley, rye, and their derivatives. A glutenfree diet allows the intestinal mucosa to heal, alleviates symptoms, and reduces the risk of complications associated with untreated celiac disease. In addition to dietary modifications, individuals with celiac disease may require nutritional supplementation to address deficiencies caused by malabsorption. Regular monitoring of nutritional status, bone health, and adherence to the gluten-free diet is essential for optimal management of the disease. Untreated or poorly managed celiac disease can lead to various complications, including nutritional deficiencies (such as iron deficiency anemia, vitamin D deficiency, and calcium malabsorption), osteoporosis, infertility, miscarriage, neurological disorders, and an increased risk of certain malignancies, particularly lymphoma.

Adhering to a strict gluten-free diet can be challenging due to the pervasive presence of gluten in many food products and crosscontamination issues. Individuals with celiac disease must carefully read food labels, avoid foods prepared in shared facilities, and be vigilant when dining out to prevent accidental gluten exposure. Research into celiac disease continues to advance our understanding of its pathogenesis, genetic factors, and potential therapeutic interventions. It can be transmitted from parent to child. Those who are Caucasian, have type 1 diabetes, are fat, or have European ancestry are more likely to experience it. Because they don't have any symptoms, they can have celiac disease and not even be aware of it. Emerging treatments under investigation include enzyme therapies to break down gluten in the digestive tract, immunomodulatory drugs to target the underlying immune response, and vaccines to induce gluten tolerance. Additionally, efforts to improve gluten detection methods, develop alternative grains and gluten-free products, and raise awareness about celiac disease are essential for enhancing the management and support available to affected individuals.

Celiac disease is a complex autoimmune disorder with diverse clinical manifestations that require a multidisciplinary approach for diagnosis, management, and long-term care. With early detection, appropriate treatment, and on-going support, individuals with celiac disease can effectively manage their condition and lead fulfilling lives free from gluten-related symptoms and complications. Although there is no known treatment for celiac disease, a gluten-free diet should help manage symptoms and stop the illness's long-term consequences. It is always advised to alter the diet even if symptoms are minor because consuming gluten can have major consequences.