Celiac disease is a chronic autoimmune disorder primarily triggered by an abnormal immune response to gluten found in grains. This condition affects the small intestinal mucosa, leading to malabsorption of nutrients and potentially causing multisystem symptoms. In recent years, with advances in diagnostic techniques and increased public health awareness, the diagnosis rate and research focus on celiac disease have continued to rise.
This disease is closely related to genetic factors, environmental triggers, and abnormal immune system activation. Patients exposed to gluten-containing grains such as wheat, barley, and certain varieties of oats can develop chronic intestinal inflammation, which damages the intestinal villi structure. This process severely impairs the absorption of minerals and vitamins, potentially resulting in malnutrition, metabolic disturbances, and other complications.
The diagnosis of celiac disease requires a combination of clinical symptoms, blood tests, and histopathological examination. Patients presenting with unexplained diarrhea, weight loss, or nutritional deficiencies should be highly suspected of having this condition. Early diagnosis can prevent long-term complications such as osteoporosis or increased risk of certain cancers. This article will detail the etiology, diagnostic methods, and treatment strategies for this disease.
The pathogenesis of celiac disease involves an interaction among genetic susceptibility, environmental triggers, and immune system abnormalities. Patients with specific human leukocyte antigen (HLA) genotypes such as HLA-DQ2 or HLA-DQ8 exhibit an exaggerated immune response in the intestinal immune cells to gliadin, a component of gluten. When gluten is broken down into specific short peptides, T cells mistakenly identify them as foreign, leading to the release of inflammatory cytokines and ultimately damaging the intestinal mucosa.
Genetic risk factors show that approximately 95% of patients carry the HLA-DQ2 gene, while HLA-DQ8 is also associated with some cases. However, only a small proportion of carriers develop the disease, indicating that environmental factors such as age at first gluten exposure, gut microbiota composition, or history of intestinal infections may influence disease manifestation. For example, early or late introduction of gluten-containing foods in infants may increase the risk of developing celiac disease.
The clinical presentation of celiac disease is highly diverse, ranging from severe gastrointestinal symptoms to asymptomatic 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 poor absorption.
Atypical symptoms are often underestimated in clinical practice, such as decreased bone density, peripheral neuropathy, or infertility, which may be related to long-term deficiencies of vitamin D or folic acid. Additionally, about 30% of patients have subtle or no symptoms, requiring large-scale screening for detection. Notably, some patients may only exhibit skin symptoms like urticaria (hives), which need differentiation from other autoimmune conditions.
Diagnosing celiac disease involves integrating clinical presentation, serological testing, and histopathological evidence. The initial step is testing for anti-tissue transglutaminase antibodies (tTG-IgA). A positive result warrants an endoscopic mucosal biopsy. Biopsy specimens should reveal characteristic histological changes such as villous atrophy and crypt hyperplasia in the small intestine.
Screening high-risk groups (e.g., first-degree relatives or patients with autoimmune diseases) can be performed using antibody tests. However, it is important to note that strict gluten-free diet for more than 6 weeks may lead to negative antibody tests, making histology essential for diagnosis. Newer biomarkers like deamidated gliadin peptide (DGP) antibodies can improve diagnostic accuracy, especially in patients with IgA deficiency, to avoid false negatives.
The only effective treatment currently is lifelong strict adherence to a gluten-free diet (GFD). Patients must completely avoid wheat, barley, rye, and other gluten-containing grains, and be cautious of hidden sources such as processed foods and additives. Dietary management requires long-term monitoring, as accidental gluten exposure can cause subclinical intestinal inflammation and increase the risk of intestinal lymphoma.
Nutritional support is key to treatment; consulting a dietitian for meal planning is recommended. Alternative grains like oats (verified to be gluten-free), quinoa, and others can provide nutritional substitutes. Some patients may require supplementation with iron, vitamin B12, or fat-soluble vitamins, especially during the initial phase when intestinal absorption is still compromised.
Currently, no medications can replace a gluten-free diet, but research includes:
As a disease related to genetic susceptibility, celiac disease cannot be completely prevented. However, the following measures can reduce symptom severity and complication risks:
1. High-risk groups (e.g., those with a family history) should undergo regular serological screening, especially if experiencing unexplained gastrointestinal symptoms
2. When infants and young children first encounter grains, gradually introducing small amounts of gluten may lower the risk of developing the disease
Patients should regularly monitor small intestinal mucosal recovery, with endoscopic examinations every 1-2 years. Those with vitamin D and calcium deficiencies should have bone density assessments to prevent osteoporosis. Additionally, attention should be paid to cross-contamination issues, such as separating kitchen utensils and reviewing food labels.
If you experience the following symptoms, seek medical evaluation promptly:
Patients with a confirmed diagnosis who continue to experience symptoms despite strict dietary adherence may have inadequate dietary control or other coexisting intestinal diseases, requiring re-evaluation. Special populations such as pregnant women or adolescents should immediately consult their healthcare team if symptoms change.
Early diagnosis and treatment can reverse intestinal damage, but long-term untreated disease may increase the risk of intestinal lymphoma. Patients should establish ongoing follow-up with a gastroenterologist and regularly assess nutritional status.
If well-planned, a gluten-free diet does not cause nutritional deficiencies. It is recommended to include whole grains such as millet and buckwheat and diversify food choices to ensure adequate fiber, iron, and B vitamins. Regular monitoring of hemoglobin and nutritional indicators can help adjust the diet accordingly.
Are processed foods labeled “gluten-free” completely safe?Careful selection of third-party certified gluten-free products is advised, as some foods may contain trace gluten due to cross-contamination. Choose products labeled as produced in gluten-free environments or certified gluten-free, and review ingredient lists for barley, wheat, or rye derivatives.
What should I do if gastrointestinal symptoms persist after starting a gluten-free diet?If symptoms do not improve, it may be due to hidden gluten intake or other conditions such as lactose intolerance. Keeping a food diary and returning for follow-up examinations are recommended. The doctor may perform endoscopy to assess intestinal healing or adjust treatment plans.
Do celiac disease patients need to avoid maltose and malt extract?Maltose and malt extract may originate from barley and pose cross-contamination risks. It is recommended to choose products explicitly labeled as “corn maltose” or “gluten-free.” If ingredient lists only mention “maltose” without specifying the source, avoid consumption.
How can diagnosed patients safely choose foods during social occasions?Communicate dietary needs with restaurant staff in advance, opt for simple preparations like steamed fish or stewed meat, and avoid dishes thickened with flour or coated with breadcrumbs. Carrying portable gluten test strips can help test food on-site to reduce the risk of acute reactions.
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