Celiac disease is a chronic autoimmune disorder primarily triggered by an abnormal immune response to gluten found in grains. This condition affects the intestinal mucosa, leading to malabsorption of nutrients and potentially causing multi-system symptoms. In recent years, with advancements in diagnostic techniques and increased public health awareness, the diagnosis rate and research interest in celiac disease have continued to rise.
This disease is closely related to genetic factors, environmental triggers, and abnormal activation of the immune system. Patients who come into contact with gluten-containing grains, such as wheat, barley, and oats (certain varieties), will trigger chronic inflammation in the intestines, subsequently damaging the intestinal villi structure. This process severely impacts the absorption of minerals and vitamins, potentially leading to complications such as malnutrition and metabolic disorders.
Diagnosing celiac disease requires a combination of clinical symptoms, blood tests, and tissue biopsy results. If patients experience unexplained diarrhea, weight loss, or symptoms of nutritional deficiency, celiac disease should be highly suspected. Early diagnosis can prevent long-term complications, such as osteoporosis or increased risk of specific cancers. This article will detail the causes, diagnostic methods, and treatment strategies for this disease.
The pathogenesis of celiac disease involves the interplay of genetic susceptibility, environmental triggers, and immune system abnormalities. Specific human leukocyte antigen gene phenotypes, such as HLA-DQ2 or HLA-DQ8, expressed in patients, cause their intestinal immune cells to overreact to gliadin, a component of gluten. When gluten is broken down into specific short peptides, T cells misinterpret them as foreign substances, inducing the release of inflammatory cytokines, ultimately leading to damage of the intestinal mucosa.
Among genetic risk factors, about 95% of patients carry the HLA-DQ2 gene, while the HLA-DQ8 gene is also associated with some cases. However, only a small portion of gene carriers will develop the disease, indicating that environmental factors such as the age of first exposure to gluten, the composition of the gut microbiome, or a history of intestinal infections may influence disease manifestation. For example, early or late exposure to gluten-containing foods in infants may increase the risk of developing the disease.
The symptoms of celiac disease are highly diverse, ranging from severe gastrointestinal symptoms to asymptomatic latent cases. Typical gastrointestinal symptoms include chronic diarrhea, bloating, and fatty stools, with adult patients possibly experiencing weight loss and iron deficiency anemia. Pediatric patients may present with growth retardation, abdominal distension, and malnutrition due to malabsorption.
Atypical symptoms are often underestimated clinically, such as decreased bone density, peripheral neuropathy, or infertility, which may be related to long-term deficiencies in vitamin D or folate absorption. Additionally, about 30% of patients may have subtle symptoms that require large-scale screening for detection. Notably, some patients may only exhibit skin urticaria-like symptoms (such as urticarial enteropathy), which need to be differentiated from other autoimmune diseases.
Diagnosing celiac disease requires integrating clinical manifestations, serological tests, and histopathological evidence. Initially, an anti-tissue transglutaminase antibody (tTG-IgA) test is performed, and if positive, an endoscopic mucosal biopsy is necessary. The biopsy should observe typical histological changes such as villous atrophy and crypt hyperplasia in the small intestine mucosa.
When screening high-risk groups (such as first-degree relatives of patients or those with autoimmune diseases), antibody screening can be conducted first. However, it should be noted that antibodies may turn negative after strict adherence to a gluten-free diet for more than six weeks, at which point histological examination results are relied upon. Novel biomarkers such as DGP antibody tests can enhance diagnostic accuracy, especially in patients with IgA deficiency to avoid false-negative results.
The only effective treatment currently is lifelong strict adherence to a gluten-free diet (GFD). Patients must completely avoid gluten-containing grains such as wheat, barley, and rye, and be cautious of hidden sources such as additives in processed foods. Dietary management requires long-term monitoring, as incidental exposure may lead to latent intestinal inflammation, increasing the risk of intestinal lymphoma.
Nutritional support is key to treatment, and it is recommended to consult a dietitian for dietary planning. Alternative grains such as oats (must ensure no cross-contamination) and quinoa can provide nutritional substitutes. Some patients may need to supplement with iron, vitamin B12, or fat-soluble vitamins, especially when intestinal absorption function has not yet recovered in the early diagnosis stage.
Currently, no medication can replace a gluten-free diet, but therapies under research include:
As a disease associated with genetic susceptibility, celiac disease cannot be completely prevented. However, the following measures can mitigate symptom exacerbation and the risk of complications:
1. High-risk groups (such as those with a positive family history) should undergo regular serological screening, especially when unexplained gastrointestinal symptoms occur.
2. When infants first encounter grains, it is recommended to gradually adapt to small amounts of gluten-containing foods, which may reduce the risk of developing the disease.
Patients need to regularly monitor the recovery of the intestinal mucosa, undergoing endoscopic examinations every 1-2 years. Those with insufficient vitamin D and calcium intake should monitor bone density to avoid osteoporosis. Additionally, attention should be paid to cross-contamination issues, such as separating kitchen utensils and reviewing food labels.
If the following symptoms occur, seek medical evaluation promptly:
Patients who have been diagnosed but continue to experience symptoms despite strict dietary adherence may be due to insufficient dietary control or concurrent other intestinal diseases, requiring re-evaluation of the diagnosis. Special populations such as pregnant women or adolescents should communicate any changes in symptoms immediately with their healthcare team.
Early diagnosis and treatment can reverse intestinal damage, but if left untreated for a long time, it may increase the risk of intestinal lymphoma. Patients should establish a long-term follow-up mechanism with a gastroenterologist and regularly assess their nutritional status.
If the diet is properly planned, a gluten-free diet will not lead to nutritional deficiencies. It is recommended to consume more whole grain substitutes (such as millet, buckwheat) and incorporate diverse ingredients to ensure adequate fiber, iron, and B vitamins. Regularly tracking hemoglobin and nutritional indicators can help adjust dietary structure in a timely manner.
Are processed foods labeled "gluten-free" completely safe?Careful selection of gluten-free products certified by third parties is necessary, as some foods may contain trace amounts of gluten due to cross-contamination. It is advisable to choose products labeled as "gluten-free manufacturing environment" or certified gluten-free, and to pay attention to ingredient lists for barley, wheat, or rye derivatives.
What should I do if gastrointestinal symptoms do not improve after starting a gluten-free diet?If symptoms do not alleviate, it may be due to continued ingestion of hidden gluten or concurrent other diseases (such as lactose intolerance). It is recommended to keep a food diary and return for check-ups; the doctor may arrange an endoscopy to confirm the condition of intestinal repair or adjust the treatment plan.
Do diagnosed patients need to completely avoid maltose and malt extract?Maltose and malt extract may be derived from barley, posing a risk of cross-contamination. It is advisable to choose products clearly labeled as "corn maltose" or "gluten-free sources." If the ingredient list only states "maltose" without specifying the source, it should be avoided.
How can diagnosed patients safely choose meals in social situations?It is possible to communicate needs with the restaurant in advance, choosing simply prepared dishes such as steamed fish or stewed meat, and avoiding dishes that use flour for thickening or coating. Carrying portable gluten testing strips can allow for on-site testing of the gluten content in meals, reducing the risk of acute flare-ups.
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