Celiac disease is an autoimmune condition triggered by the consumption of gluten, a protein found in wheat, barley, and rye. When individuals with celiac disease ingest gluten, their immune system mistakenly attacks the lining of their small intestine, leading to damage. A significant number of people affected by celiac disease remain undiagnosed, with estimates suggesting that up to 80% of those with the condition are unaware they have it. This lack of diagnosis can result in various health complications over time.
Recognizing Varied Symptoms
Celiac disease often presents with a wide array of symptoms, making diagnosis challenging. While some people experience classic gastrointestinal symptoms, others may have subtle or entirely non-digestive manifestations. Traditional symptoms include chronic diarrhea, abdominal pain, bloating, and unintentional weight loss, which are indicative of malabsorption in the small intestine. However, these typical digestive issues are becoming less common as the primary presentation.
Fatigue is a common complaint, marked by persistent exhaustion even after adequate sleep. Other manifestations can include joint pain and arthritis, which involve inflammation and stiffness in the joints.
Skin rashes, such as dermatitis herpetiformis, are also linked to celiac disease. This chronic skin condition features intensely itchy, blistering rashes, most commonly found on the elbows, knees, scalp, and buttocks. Neurological issues can also arise, including migraines and “brain fog,” which involves difficulty concentrating or memory problems. Celiac disease can also contribute to defects in dental enamel.
Health Risks of Undiagnosed Celiac Disease
When celiac disease remains undiagnosed and untreated, the ongoing damage to the small intestine can lead to a range of long-term health complications due to chronic inflammation and impaired nutrient absorption. Nutrient deficiencies are common, including insufficient levels of iron, calcium, vitamin D, and folate. Iron-deficiency anemia, caused by poor absorption of iron, is one of the most frequent presentations in adults. These deficiencies can contribute to conditions such as osteoporosis, where bones become brittle and weak, increasing the risk of fractures.
Undiagnosed celiac disease is also associated with reproductive issues, including infertility and a higher risk of miscarriage. Furthermore, celiac disease can contribute to fertility problems in women and delayed puberty in children. The chronic inflammation in the small intestine can increase the risk of certain cancers, including intestinal lymphoma, adenocarcinoma, and esophageal cancers.
Neurological complications can persist or develop, such as peripheral neuropathy, characterized by tingling, numbness, or pain in the hands and feet. Additionally, untreated celiac disease increases the likelihood of developing other autoimmune disorders, such as type 1 diabetes or multiple sclerosis. In children, delayed diagnosis can lead to stunted growth and delayed development.
The Diagnostic Process
Diagnosing celiac disease typically begins with specific blood tests that look for antibodies produced by the immune system in response to gluten. The primary antibody tests include tissue transglutaminase IgA (tTG-IgA), endomysial antibodies (EMA), and deamidated gliadin peptides (DGP). Elevated levels of these antibodies suggest the possibility of celiac disease.
If blood tests indicate the presence of these antibodies, a confirmation procedure involving an upper gastrointestinal endoscopy with small intestinal biopsy is usually performed. During this procedure, a flexible tube with a camera is inserted through the mouth to visualize the lining of the small intestine, and small tissue samples are collected. A pathologist then examines these tissue samples under a microscope to identify characteristic damage to the villi, which are the finger-like projections in the small intestine responsible for nutrient absorption.
Individuals must continue to consume gluten-containing foods during the diagnostic process, especially before blood tests and the biopsy. Discontinuing gluten prior to testing can lead to false negative results, as the absence of gluten allows the intestinal lining to heal, potentially masking the signs of celiac disease. Genetic testing, which identifies the presence of HLA-DQ2 or HLA-DQ8 genes, can also be used as a screening tool. While these genes indicate a genetic predisposition to celiac disease, their presence alone does not confirm a diagnosis, as many people with these genes never develop the condition.