Celiac Disease

Abstract

Introduction and Definition: Celiac Disease (CD) is an autoimmune disorder affecting the small intestine, triggered by an abnormal immune response to gluten, a protein found in wheat, barley, and rye. Although its roots date back to the 2nd century AD, the condition was first identified by English physician Samuel Gee in 1888, who hypothesized dietary changes as beneficial. Today, the National Institute of Diabetes and Digestive and Kidney Diseases defines CD as "a chronic digestive and immune disorder that damages the small intestine". CD affects about 1% of the global population, yet about 80% of cases go undiagnosed. This significant underdiagnosis highlights the need for greater awareness and research, as delayed diagnosis can cause complications and reduce quality of life.

Causes: Gluten consumption in individuals carrying the HLA-DQ2 and HLA-DQ8 genetic alleles causes inflammation in the small intestine, leading to villous atrophy (damage to nutrient-absorbing villi). Beyond genetics, environmental factors such as early-life gluten exposure, gastrointestinal infections, frequent early-life illnesses, and microbiome (digestive bacteria) changes may contribute to disease onset in some cases.

Symptoms and Diagnosis: CD symptoms vary widely, ranging from digestive issues like diarrhea and bloating to nutrient malabsorption problems like anemia, as well as systemic effects including osteoporosis, mental health issues, and reproductive problems. Timely diagnosis can prevent complications and often begins with blood tests to detect elevated levels of antibodies, followed by biopsies of the small intestine to confirm villous atrophy.

Treatment and Management: The only current treatment for CD is a lifelong gluten-free diet, essential for healing the small intestine and alleviating symptoms. While vitamin and mineral supplements may help manage deficiencies, they do not heal the intestine. Effective management involves educating patients about CD, providing regular medical monitoring, and offering support for the social and emotional challenges associated with the condition.

Current Research: Ongoing research explores enzyme therapies, vaccines, and microbiome-targeted treatments to supplement the gluten-free diet. Latiglutenase, a combination of enzymes that break down gluten, shows promise in reducing intestinal damage and symptoms from accidental gluten exposure, a common issue for patients. It is being considered as a possible additional therapy for CD.