
Celiac Disease is a chronic autoimmune condition that occurs in genetically predisposed people affecting approximately 1 in 100 people worldwide, but only about 30% are properly diagnosed. When individuals with Celiac Disease consume gluten—a protein found in wheat, barley, and rye—their immune system attacks the fingerlike projections that line the small intestine, which are called villi. This can interfere with nutrient absorption (malabsorption) and lead to health complications if left untreated.
Symptoms of Celiac Disease
Symptoms vary widely among individuals and can affect different parts of the body. 50% of diagnosed patients still report symptoms even while following a gluten-free diet. Common gastrointestinal symptoms include diarrhea, bloating, constipation, nausea, abdominal pain, and weight loss. However, non-digestive symptoms like fatigue, anemia, joint pain, loss of bone density, mouth ulcers, headaches, and elevated liver enzymes are also frequent. Gluten intolerance can also cause Dermatitis herpetiformis, a blistery skin condition usually occurring on the elbows, knees, torso, and scalp.
Risk Factors for Celiac Disease
Celiac Disease is hereditary; people who have a first relative with Celiac Disease have a 1 in 10 risk of developing the disease. Environmental factors, such as early gluten introduction and certain infections, may also contribute to its onset.

Long-Term Health Effects of Celiac Disease
Undiagnosed or untreated Celiac Disease can lead to other long-term health effects and autoimmune disorders like type 1 diabetes, multiple sclerosis (MS), anemia, osteoporosis, epilepsy, migraines, infertility, and heart diseases. People with Celiac Disease have 2 times more risk of developing coronary artery disease and a 4 times greater risk of developing small bowel cancers. However, earlier diagnosis lowers the chance of developing other autoimmune conditions and long-term health problems.
Management and Prevention of Celiac Disease
Currently, the only effective treatment for Celiac Disease is a strict lifelong gluten-free diet. Avoiding gluten can help heal intestinal damage and alleviate symptoms. Raising awareness about the importance of early diagnosis and dietary management is essential in improving the quality of life for individuals with Celiac Disease by managing Celiac Disease and preventing further complications.
Diagnosis and Detection of Celiac Disease
Diagnosis and detection of Celiac Disease usually occur through a combination of blood antibody tests and intestinal biopsies, accompanied by specific genetic testing.
Making the diagnosis is not always straightforward since about 5% of patients present normal antibody levels and many people only show minor intestinal changes with normal villi. Advanced molecular methods like Real-Time PCR can provide reliable insights into genetic predisposition for Celiac Disease.

Certain variants of the HLA-DQA1 and HLA-DQB1 genes provide the main susceptibility molecules for Celiac Disease, critical for pathogenesis. These molecules include HLA-DQ2.2, HLA-DQ2.5, and HLA-DQ8, which are collectively present in almost all (99%) patients with Celiac Disease. The main advantage of performing detection tests for these alleles is its ability to exclude Celiac Disease diagnosis when these susceptibility genotypes are absent. Additionally, although a positive HLA test doesn’t provide a diagnosis, it can indicate the need for further investigation with blood tests and biopsy.
With Bosphore Celiac HLA DQ2/DQ8 Detection Kit v1 detection of HLA-DQ2.2, HLA-DQ2.5, and HLA-DQ8 is possible from whole blood and buccal swap samples.