Celiac disease is an autoimmune condition where consuming gluten, a protein found in wheat, barley, and rye, triggers an immune response that damages the small intestine. This damage can interfere with nutrient absorption, leading to various health issues. With your sister’s celiac disease diagnosis, you may wonder if you should also be tested.
Celiac Disease and Genetics
Celiac disease has a strong genetic component, often running in families. The presence of specific human leukocyte antigen (HLA) genes, primarily HLA-DQ2 and HLA-DQ8, is necessary for an individual to develop the condition. These genes are found in approximately 95% of individuals with celiac disease, though they are also present in about 30% of the general population. While having these genetic markers increases susceptibility, it does not guarantee that someone will develop celiac disease.
Environmental factors are also believed to play a role in triggering the disease in genetically predisposed individuals. First-degree relatives (parents, siblings, children) of someone with celiac disease have a significantly higher risk, estimated at 1 in 10, compared to the general population.
Who Should Consider Testing?
Given your sister’s diagnosis, you are in a primary group for whom celiac disease testing is recommended. First-degree relatives should consider screening, even without symptoms, to identify the condition early and prevent long-term complications.
Testing is also advisable for individuals who experience persistent symptoms that could indicate celiac disease. These symptoms often include chronic diarrhea, abdominal pain, unexplained weight loss, and iron-deficiency anemia. Other potential indicators include fatigue, skin rashes, and bone pain.
Furthermore, individuals with certain other autoimmune conditions are at an increased risk for celiac disease and should consider testing. These conditions include Type 1 diabetes, autoimmune thyroid disease, Down syndrome, and Turner syndrome. Consulting with a healthcare provider is an important step to determine if testing is appropriate based on your medical history and family background.
Understanding the Testing Process
Celiac disease diagnosis typically begins with blood tests for gluten-related antibodies. These initial tests usually include tissue transglutaminase IgA (tTG-IgA) and sometimes deamidated gliadin peptide (DGP) IgA or IgG. For accurate results, it is essential to be consuming a regular gluten-containing diet for several weeks prior to these blood tests. Avoiding gluten before testing can lead to false negative results.
If the blood tests indicate elevated antibody levels, a confirmatory procedure, typically an upper endoscopy with small intestinal biopsies, is performed. During this procedure, a doctor examines the small intestine and takes tiny tissue samples to check for characteristic damage to the villi, which are small, finger-like projections responsible for nutrient absorption. It is important to continue eating gluten throughout the testing process, from initial blood tests through endoscopy, until a definitive diagnosis. This ensures any intestinal damage remains evident for accurate assessment.
Next Steps After Testing
If your test results confirm a diagnosis of celiac disease, the primary and lifelong treatment involves adhering to a strict gluten-free diet. This means eliminating all foods containing wheat, barley, and rye, and carefully checking food labels for hidden sources of gluten. While challenging initially, following this diet allows the small intestine to heal, leading to symptom improvement and a reduced risk of long-term health complications.
Working closely with a healthcare professional, such as a gastroenterologist, is important to manage your condition and monitor your recovery. A registered dietitian specializing in celiac disease can provide valuable guidance on navigating a gluten-free diet, identifying safe foods, and ensuring adequate nutrient intake. Regular follow-up appointments are often recommended to assess healing and address any ongoing concerns.
If your test results are negative, you do not currently have celiac disease. However, celiac disease can develop at any age, so if new or persistent symptoms arise later, retesting may be considered. A negative celiac test does not rule out non-celiac gluten sensitivity, a condition where individuals experience symptoms after consuming gluten but do not have the intestinal damage characteristic of celiac disease.