Celiac Disease
Celiac disease is an autoimmune disorder where the ingestion of gluten—a protein found in wheat, barley, and rye—triggers an immune response that damages the small intestine. This damage leads to inflammation and villous atrophy (flattening of the small fingerlike projections lining the small intestine), which reduces the surface area available for nutrient absorption. As a result, people with celiac disease can experience malnutrition and various systemic symptoms, despite eating a balanced diet. At Blume Health, our gastroenterology team provides expert diagnosis, treatment, and ongoing management for celiac disease patients.
Causes
- Genetic predisposition: Specific HLA-DQ2 and HLA-DQ8 genes increase susceptibility
- Environmental triggers, with gluten being the primary trigger
- Autoimmune reaction where the body's immune system mistakenly attacks its own tissues
- Family history (first-degree relatives have a 10-15% higher risk)
- Other autoimmune disorders (type 1 diabetes, autoimmune thyroid disease, etc.) increase risk
- Viral infections or gut bacteria changes may contribute to onset in genetically predisposed individuals
- Timing of gluten introduction in infancy (controversial)
- Pregnancy can sometimes trigger or unmask celiac disease
- Emotional stress or trauma may trigger onset in susceptible individuals
- Surgery, particularly gastrointestinal surgery
Signs and Symptoms
- Digestive symptoms: diarrhea, bloating, gas, abdominal pain, and nausea
- Weight loss or difficulty gaining weight despite adequate food intake
- Malnutrition leading to anemia (iron, folate, or B12 deficiency)
- Fatigue and weakness
- Bone or joint pain
- Arthritis
- Osteoporosis or osteopenia due to calcium and vitamin D malabsorption
- Dermatitis herpetiformis (itchy, blistering skin rash)
- Headaches or migraines
- Neurological problems including ataxia, seizures, or peripheral neuropathy
- Reproductive issues: infertility, recurrent miscarriages, or late onset of menstruation
- Dental enamel defects
- Depression, anxiety, or "brain fog"
- Growth problems or delayed puberty in children
Diagnosis
Blood Tests
Serological tests to detect specific antibodies associated with celiac disease, including tissue transglutaminase antibodies (tTG-IgA), endomysial antibodies (EMA), and deamidated gliadin peptide antibodies (DGP). Total IgA levels are also measured since IgA deficiency is more common in celiac patients.
Genetic Testing
Testing for HLA-DQ2 and HLA-DQ8 genes. While these genes don't diagnose celiac disease, their absence makes celiac disease highly unlikely. This testing is particularly useful for ruling out the condition in high-risk individuals or when other tests are inconclusive.
Endoscopy with Biopsy
The gold standard for diagnosis involves an upper endoscopy to obtain small intestine tissue samples for examination. Multiple biopsies are taken to look for characteristic changes including villous atrophy, crypt hyperplasia, and increased intraepithelial lymphocytes.
Additional Testing
Once diagnosed, further testing may be done to assess complications or associated conditions, including bone density scans, nutritional deficiency testing, thyroid function tests, and liver function tests.
Treatment Options
Strict Gluten-Free Diet
The only effective treatment for celiac disease is lifelong adherence to a strict gluten-free diet. This means eliminating all foods containing wheat, barley, and rye. Even trace amounts of gluten can trigger intestinal damage in sensitive individuals. Our dietitians provide comprehensive education and support for managing this diet effectively.
Nutritional Supplementation
Many newly diagnosed patients have nutritional deficiencies that need correction. Supplements of iron, calcium, vitamin D, zinc, magnesium, folate, vitamin B12, and other nutrients may be recommended based on individual needs. Regular monitoring helps ensure optimal nutritional status.
Management of Complications
Treatment for specific complications may be necessary. This could include medications for dermatitis herpetiformis, osteoporosis treatment, or management of associated autoimmune conditions. Regular follow-up is important to monitor for and address potential complications.
Treatment for Refractory Celiac Disease
In rare cases where patients don't respond to a gluten-free diet (refractory celiac disease), immunosuppressive medications may be considered. These cases require specialized care and careful monitoring due to the increased risk of complications including enteropathy-associated T-cell lymphoma.
Home Remedies
Cross-Contamination Prevention
Implementing strategies to prevent gluten cross-contamination in your kitchen, such as using separate toasters, cutting boards, and utensils for gluten-free foods, and cleaning cooking surfaces thoroughly before preparing gluten-free meals.
Meal Planning and Preparation
Developing a system for meal planning and preparation that makes gluten-free eating easier, such as batch cooking gluten-free meals, preparing portable snacks, and having quick gluten-free options available for busy days.
Label Reading Skills
Becoming proficient at reading food labels to identify hidden sources of gluten. Ingredients like malt, modified food starch, and certain additives may contain gluten. Using smartphone apps designed for celiac patients can help identify safe products.
Managing Social Situations
Developing strategies for dining out, traveling, and attending social events while maintaining a gluten-free diet. This includes researching restaurants in advance, carrying emergency gluten-free snacks, and communicating clearly with hosts and food service staff.
Joining Support Groups
Connecting with local or online celiac support communities to share experiences, recipes, and tips for managing the practical and emotional aspects of living with celiac disease.
Preventive Care
- Strictly adhere to a gluten-free diet for life, even when symptoms improve
- Regular follow-up with gastroenterologist to monitor disease management
- Periodic nutritional assessments to check for deficiencies
- Bone density screening to monitor for osteoporosis
- Regular dental check-ups due to higher risk of dental enamel defects
- Vaccination for pneumococcal infection (recommended for patients with celiac disease)
- Screening for thyroid disorders and other autoimmune conditions
- Family member screening, particularly first-degree relatives
- Annual blood tests to confirm antibody levels have normalized
- Regular monitoring for complications such as refractory celiac disease or intestinal lymphoma in high-risk patients
Surgical Options
Diagnostic Endoscopy
While not a treatment itself, endoscopy with small intestine biopsy is the gold standard for diagnosing celiac disease. This minimally invasive procedure allows visualization of the small intestine and collection of tissue samples to confirm the diagnosis through microscopic examination. Multiple biopsies are typically taken to ensure accurate diagnosis.
Capsule Endoscopy
In certain cases, particularly when traditional endoscopy cannot adequately visualize all areas of concern, capsule endoscopy may be used. This involves swallowing a small camera-containing capsule that transmits images as it passes through the digestive tract, allowing visualization of areas that may be difficult to reach with standard endoscopy.
Procedures for Complications
Rarely, surgical interventions may be needed to address complications of long-standing or severe celiac disease, such as intestinal strictures, ulcerations, or malignancies. These are not treatments for celiac disease itself but rather for managing its complications in cases of delayed diagnosis or poor management.
Schedule a Consultation
If you're experiencing symptoms of celiac disease, our expert team is here to help you find the right treatment approach for your specific needs.