Celiac Disease: Symptoms, Causes and Treatment

Celiac disease remains underdiagnosed due to its wide range of symptoms that often overlap with other conditions. This chronic autoimmune disorder, triggered by gluten, can significantly impact an individual's quality of life, leading to gastrointestinal issues, fatigue, and long-term health complications. Early diagnosis and effective treatment can help manage symptoms and prevent further damage to the small intestine.

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What's Celiac Disease?

Celiac disease is an autoimmune disorder where the ingestion of gluten triggers an immune response that damages the small intestine. Gluten is the group of proteins found in wheat, barley, rye, and their derivatives that gives dough its elasticity and helps it rise and maintain its shape.

In autoimmune diseases, the body's immune system becomes confused and attacks its own tissues. In celiac disease, gluten triggers this response. As a result, the immune system makes antibodies that initiate an attack against the healthy tissues of the small intestine, leading to gastrointestinal inflammation and damage.

How Celiac Disease Differs from Gluten Sensitivity

Celiac disease is a distinct condition from gluten sensitivity (also called non-celiac gluten sensitivity, or NCGS). People with gluten sensitivity may experience symptoms when they consume gluten but do not have the characteristic immunological and small intestinal cellular changes observed in people with celiac disease.

Causes and Risk Factors

Autoimmune diseases are caused by an interplay of genetic and environmental factors. 

Genetic variants can modify immune function so that the body loses self-tolerance and overreacts to self-proteins. HLA-DQ genetic variants, particularly HLA-DQ2 and HLA-DQ8, are considered the primary genetic factor for celiac disease. 

The HLA system helps the body identify and respond to foreign substances. These HLA-DQ variants present gluten peptides to T cells (a type of immune cell) in a way that the immune system mistakenly recognizes gluten as harmful, mounting an inflammatory autoimmune response. 

Approximately 95% of patients with celiac disease express HLA-DQ2, and the rest carry the HLA-DQ8 gene. However, only about 3% of HLA-DQ carriers will develop celiac disease, highlighting the fact that other factors play into the "turning on" of gluten-related autoimmunity. 

Environmental factors identified as contributing to the development of celiac disease include: 

• Intestinal dysbiosis
• Childhood gastrointestinal infections 
• Antibiotic use
• Chronic stress
• Exposure to environmental toxins

Prevalence and Demographics

Celiac disease affects approximately 1% of the global population. 

In the United States, celiac disease is more common in:

• Individuals of European descent 
• Women
• Individuals with other autoimmune disorders
• People who have a first-degree relative with celiac disease

Symptoms of Celiac Disease

Celiac disease can present with over 250 known symptoms, affecting a range of body systems.

Common Symptoms

In classical celiac disease, patients have signs and symptoms of malabsorption: 

• Abdominal pain and distension
• Bloating
• Gas
• Nausea and vomiting
• Diarrhea
• Fatty stools (steatorrhea)
• Unexplained weight loss

Anemia may also result from malabsorption of iron, folate, and vitamin B12, leading to symptoms like:

• Fatigue
• Pale skin
• Shortness of breath
• Muscle weakness

Atypical Symptoms

Non-classical celiac disease presents without the typical signs of malabsorption. Instead, these patients may have the following symptoms:

• Iron deficiency anemia
• Chronic fatigue
• Migraines
• Tingling, pain, and numbness in the hands and feet
• Elevated liver enzymes
• Reduced bone mineral density and bone fractures
• Irregular menstrual cycles and early menopause
• Unexplained infertility
• Mood disorders like anxiety and depression
• An itchy skin rash called dermatitis herpetiformis

Symptoms Across Different Age Groups

Children are more likely to exhibit classic signs of malabsorption than adults. These may include: 

• Tooth enamel defects
• Failure to thrive (the child is not growing at an appropriate rate for their age and sex)
• Delayed puberty
• Mood changes
• Weight loss

In contrast, adults commonly present with nonspecific symptoms, such as generalized abdominal pain, anemia, and fatigue, delaying evaluation and diagnosis. According to one study, the average time to diagnosis from the first symptom presentation is 9.7 years. 

Diagnosing Celiac Disease

In addition to a thorough clinical evaluation, diagnosing celiac disease involves a combination of laboratory tests and more advanced medical procedures. 

Blood Tests

The 2023 American College of Gastroenterology (ACG) guidelines recommend initial serologic testing with tissue transglutaminase immunoglobulin A (tTG-IgA). To ensure accurate results, patients should consume a gluten-containing diet for at least 6-8 weeks before their blood draw and have sufficient IgA levels. A total IgA level can be measured to rule out IgA deficiency.

Endomysial antibody (EMA) can be measured when tTG-IgA is borderline. It is not recommended as an initial test due to its higher cost. 

The HLA-DQ2 and HLA-DQ8 genetic tests are alternative serologic tests that can help rule in the possibility of celiac disease in patients following a gluten-free diet who cannot consume gluten before testing. A positive test indicates genetic susceptibility to the disease and should not be interpreted as a definitive diagnosis.

Confirmatory Procedures

If serologic tests and clinical presentation suggest a diagnosis of celiac disease, an upper endoscopy with duodenal biopsies is required in children and adults to confirm it.

The following characteristic cellular changes are diagnostic of celiac disease:

• Villous Atrophy: damage to the tiny, finger-like projections (villi) in the small intestine
• Crypt Hyperplasia: deep, gland-like structures (crypts) in the lining of the small intestine become enlarged or overly active
• Intraepithelial Lymphocytosis: an increase in the number of a type of immune cell called lymphocytes within the lining of the small intestine

Differential Diagnosis

A differential diagnosis is the process of distinguishing a particular disease from other conditions that may present with similar symptoms. It involves considering all possible causes of a patient's symptoms and systematically ruling them out through tests, exams, and clinical evaluations.

This process is important because many medical conditions share overlapping symptoms, and effective treatment depends on an accurate diagnosis. For example, celiac disease may share symptoms with other gastrointestinal disorders like:

• NCGS
• Irritable bowel syndrome (IBS)
• Inflammatory bowel disease (IBD)
• Microscopic colitis
• Lactose intolerance
• Small intestinal bacterial overgrowth (SIBO)
• Food allergies or sensitivities
• Giardiasis
• Exocrine pancreatic insufficiency (EPI)

Treatment and Management

Lifelong adherence to a gluten-free diet (GFD) is the cornerstone of celiac disease treatment and remission. 

Adopting a Gluten-Free Diet

There is evidence to suggest that as little as 100 mg of gluten daily causes intestinal damage to patients with celiac disease. Therefore, gluten avoidance is critical in preventing further damage to the intestines and supporting intestinal recovery:

• Intestinal permeability studies have shown that intestinal recovery begins as soon as one week of gluten elimination.
• 95% of children diagnosed with celiac disease have complete intestinal recovery within two years after starting a GFD.
• Up to 95% of patients feel better within a few weeks after avoiding gluten. 

Components of a healthy GFD include:

• Fresh fruits and vegetables
• Gluten-free whole grains
• Beans and legumes
• Dairy
• Meat, eggs, and seafood
• Nuts and seeds
• Healthy oils
• Herbs and spices

Gluten-Containing Grains to Avoid

• Barley
• Bulgar
• Durum
• Farro
• Kamut
• Rye
• Semolina
• Spelt
• Triticale
• Wheat

Gluten-Free Grains Safe to Eat

• Amaranth
• Buckwheat
• Corn
• Millet
• Quinoa
• Rice
• Sorghum
• Teff

A Note on Oats

While oats naturally do not contain gluten, they are often processed in facilities that handle wheat, barley, and rye, leading to cross-contamination. This means that oats can contain trace amounts of gluten, making them unsafe for people with celiac disease.

Additionally, some individuals with celiac disease may experience reactions to oats even if they are certified gluten-free. This is because specific proteins in oats, such as avenin, can trigger an immune response similar to gluten in people with celiac disease. 

Because of these potential issues, individuals with celiac disease should work closely with their medical team to determine whether oats can be safely included in their diet.

Nutritional Considerations

Patients eating a GFD often have reduced intake of nutrients, including: 

• Fiber
• Iron
• Calcium
• Magnesium
• Zinc
• Vitamin D
• Vitamin B12
• Folate

A good quality multivitamin/mineral complex can help fill nutritional gaps and prevent nutrient deficiencies secondary to low dietary intake and malabsorption.  

Additional supplements that may provide benefit to patients with celiac disease include:

• Gluten-degrading digestive enzymes taken with food may help prevent intestinal damage from accidental gluten exposure.
• Probiotics may offer benefits in treating celiac disease by improving gastrointestinal symptoms, restoring gut microbiota balance, and supporting healthy intestinal inflammation levels. Certain probiotic strains, such as Lactobacillus and Bifidobacterium, have also shown the potential to break down gluten peptides, which could further mitigate the inflammatory response in celiac disease.

Nutritional supplements should complement, not replace, a gluten-free diet. 

Integrative Approaches

Intestinal permeability, often called "leaky gut," plays a role in the etiology of celiac disease. In individuals with celiac disease, the small intestine's lining becomes more permeable, allowing larger particles to pass through the intestinal barrier, interact with the immune system, and trigger the autoimmune response.

Therefore, integrative strategies targeting intestinal permeability should be considered part of a broader approach to managing celiac disease and reducing overall autoimmunity. These could include:

• Managing stress, which can induce dysbiotic changes in the intestinal microbiome and upregulate zonulin (a protein that can increase intestinal permeability)
• Reducing exposure to environmental toxins by eating organic, avoiding the use plastic food storage containers, using natural household cleaners, and using air/water filters. 

Living with Celiac Disease

Getting a celiac diagnosis can be overwhelming as you begin to navigate lifestyle changes.

These tips can help ease the transition to make it feel more manageable:

• Plan meals ahead of time to ensure a balanced, gluten-free diet.
• Use fresh, unprocessed ingredients whenever possible to avoid hidden gluten.
• Batch cook and freeze gluten-free meals for busy days.
• Keep a well-stocked pantry with gluten-free staples like rice, quinoa, and gluten-free pasta.
• Invest in separate cooking utensils and cookware to prevent cross-contamination.
• Always check the ingredients list on food labels for gluten-containing grains such as wheat, barley, rye, and their derivatives.
• Look for certified gluten-free labels from reputable organizations to ensure the product is safe.
• Be cautious of hidden gluten in processed foods, sauces, or seasonings (e.g., soy sauce, certain soups).
• Familiarize yourself with common terms incompatible with a GFD, like "hydrolyzed wheat protein" or "malt."
• When dining out, research restaurants that offer gluten-free options or are familiar with cross-contamination risks. Communicate your dietary needs to restaurant staff and ask about food preparation and handling procedures.
• Seek counseling or therapy if you're struggling with the emotional impact of the diagnosis.
• Join a support group to connect with others facing similar challenges.
• Schedule regular follow-ups with a healthcare provider to monitor your health. Discuss any new symptoms or health concerns with your doctor to ensure your diet and management plan are effective.

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Key Takeaways

• Celiac disease is a chronic autoimmune disorder where the ingestion of gluten triggers an immune response that damages the small intestine, leading to nutrient malabsorption and a variety of symptoms. 
• These symptoms can vary widely, ranging from gastrointestinal issues like diarrhea and bloating to non-gastrointestinal symptoms such as fatigue and mood changes, which can make diagnosis challenging and often result in delays in identifying the condition. 
• While blood tests measuring antibodies, such as tissue transglutaminase, are commonly used for initial screening, the gold-standard diagnosis for celiac disease remains an upper endoscopy with a small intestinal biopsy.
• A lifelong, strict gluten-free diet is non-negotiable for preventing further intestinal damage and promoting intestinal healing. 
• In addition to the GFD, interventions like dietary supplements to address nutritional deficiencies, stress management techniques, and reducing exposure to environmental toxins can further help reduce inflammation and support intestinal repair.