Celiac Disease Definition

Celiac Disease is a condition affecting the small intestine in which consuming foods that contain gluten, a plant protein prominent in wheat, triggers an inflammatory response that prevents the intestinal mucosa (lining) from absorbing nutrients.

Gluten, and more specifically proteins it contains called gliadins, acts as an antigen to initiate a localized immune response. Researchers believe celiac disease has a genetic foundation, though the specific gene or genes responsible remain undetermined.

Though severe celiac disease can cause significant nutritional deficiencies that affect growth, fertility, and overall health, most people who adopt a gluten-free diet are able to avert the inflammatory episodes and minimize damage to the intestinal mucosa.

About 1 in 5,000 Americans has celiac disease.

Symptoms of Celiac Disease and Diagnostic Path

Symptoms appear in celiac disease with exposure to gluten, so usually do not become apparent until after the age of two years when children begin eating solid foods. People who have celiac disease experience a broad range of symptoms, with some people having virtually no indications they have celiac disease until nutritional deficiencies become problematic and other people suffering chronic diarrhea, cramping, abdominal distention, and other gastrointestinal disruptions.

Some people have outbreaks of dermatitis herpetiformis, an itchy skin rash. An early indication of celiac disease, especially in children, is the passing of large, loose, light-colored, foul-smelling stools, which suggests high fat excretion (steatorrhea) characteristic of malabsorption.

Celiac disease may affect any or all of the segments of the small intestine, and the degree to which it affects them determines the symptoms. Many of the symptoms and signs of celiac disease arise from health problems due to nutritional deficiencies that correlate to the segment of small intestine affected, manifesting in conditions such as anemia (deficiency of iron, suggesting involvement of the duodenum and upper jejunum) and frequent nosebleeds (deficiency of vitamin k, suggesting involvement of the lower jejunum and the ileum). Children who have celiac disease may also appear malnourished, showing spindly limbs and protruding bellies, despite adequate food consumption.

Biopsy of the intestinal mucosa in people who have celiac disease tends to show marked structural differences from normal intestinal mucosa. Most significant is flattening of the mucosal tissue from its normal “pleated” appearance, which reduces the surface area available for nutrient absorption.

Lymphocytes and leukocytes are also present within the mucosal tissue, evidence of the inflammatory process. However, there are no definitive tests to diagnose celiac disease. Blood tests to measure antibody levels and biopsy of the intestinal mucosa provide strong, though not conclusive, evidence of celiac disease. Antibody levels become elevated only during active episodes of the disease, and biopsy samples may not represent the overall status of the small intestine.

The gastroenterologist considers these results in conjunction with the pattern of symptoms, family medical pedigree, and response to a gluten-free diet. Symptoms that disappear with a gluten-free diet provide fairly conclusive diagnosis, though this marker is useful only in people who have obvious gastrointestinal or dermatologic symptoms.

Celiac Disease Treatment Options and Outlook

The primary treatment for celiac disease is a gluten-free diet. This means eliminating all wheat and wheat products, as well as numerous processed foods that contain gluten as filler. Many foods that restaurants serve also contain gluten, requiring great diligence to determine food ingredients. Wheat-free products may still contain gluten. Some people also need to eliminate oats, barley, and rye and products made from them, as these grains contain small amounts of gluten.

People who have severe celiac disease may require nutritional supplements or nutritional-replacement therapies. Most people who follow a glutenfree diet experience improvement within two weeks and an end to their symptoms within a few months. The longer there are no symptoms, the more the intestinal mucosa restores itself and often returns to normal in people who remain symptom-free for several years.

Risk Factors and Preventive Measures

Celiac disease appears to be genetic, and as yet researchers do not know what, if any, risk factors exist. Many people are able to control their symptoms and prevent disease flareups by avoiding foods that trigger them. The doctor also may recommend nutritional supplements to minimize or prevent nutritional deficiencies.


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