Celiac disease overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
American Gastroenterological Association (AGA) Definition: “Chronic malabsorptive disorder of the small intestine caused by exposure to dietary gluten in genetically predisposed individuals”
Celiac disease is an autoimmune disorder of the small bowel that occurs in genetically predisposed people of all ages from middle infancy. Symptoms include chronic diarrhoea, failure to thrive (in children) and fatigue, but these may be absent and symptoms in all other organ systems have been described. It is estimated to affect about 1% of Indo-European populations, although significantly underdiagnosed. A growing portion of diagnoses are being made in asymptomatic persons as a result of increasing screening.[1]
Historical Perspective
Since the advent of human life on the earth, human beings have met their nutritional demands through hunting. In times of scarce supply of food from animal sources humans used to turn to fruits, seeds, and nuts for their nutritional needs. About 8,000 years ago, Aretaeus, a Greek physician from Cappadocia, wrote a total of 8 books on medicine. In one of his books, he described a patient with celiac disease and called it 'koiliakos'. It came from Greek word of 'koelia' (abdomen), explaining diarrhea as the inability to retain food and the passage of undigested material through the gastrointestinal tract. This later formed the basis of explanation of various diseases presenting as chronic malabsorptive diarrhea, including celiac disease. In October 1887, Samuel Gee, an English pediatrician, comprehensively explained celiac disease in one of his lectures. Gee was of the opinion that if a patient affected by celiac disease can be cured at all, it must be by means of diet. He also added that the percentage of farinaceous food intake in celiac patients must be low. Gee also introduced the concept of gluten-free diet for the relief of symptoms.
Classification
Celiac disease (CD) may be classified according to the symptoms and laboratory findings into 5 sub groups as, classical, atypical, asymptomatic, latent, and potential CD.
Pathophysiology
Celiac disease is caused by a reaction to gliadin, a gluten based protein found in wheat (and similar proteins of the tribe Triticeae which includes other cultivars such as barley and rye). Upon exposure to gliadin, the enzyme tissue transglutaminase modifies the protein, leading to activation of the immune system. The immune system in turn cross-reacts with the bowel tissue, causing an inflammatory reaction. The result is flattening of the lining of the small intestine, which interferes with the absorption of nutrients. The only effective treatment is a lifelong gluten-free diet. Gluten may cause symptoms in people without celiac disease.
Causes
The common causes of celiac disease are autoantibodies to gluten and certain genetic factors.
Differentiating Celiac Disease from other Diseases
Celiac disease must be differentiated from other diseases presenting as chronic diarrhea. Common differntials of celiac disease include lactose intolerance, cystic fibrosis, Crohns disease, laxative overuse, hyperthyroidism and irritable bowel syndrome.
Epidemiology and Demographics
Celiac disease is more prevalent than previously thought. The prevalence of celiac disease in 2017 is estimated to be 500 to 1000 per 100,000 individuals worldwide. The incidence of celiac disease is approximately 10-13 per 100,000 individuals worldwide. Celiac disease affects children and adults alike. Celiac disease usually affects individuals of the non-Hispanic whites (1000 per 100,000 individuals), Hispanics (300 per 100,000 individuals) and non-Hispanic blacks (200 per 100,000 individuals). Like other autoimmune disorders, women are more commonly affected by celiac disease than men. In Africa, Algerian refugees have the highest number of prevalence rate at 5600 per 100,000 individuals.
Risk Factors
Common risk factors in the development of celiac disease include a positive family history, HLA genes, other autoimmune diseases, infections, and certain drugs.
Screening
Screening with tissue transglutaminase (tTG) IgA test is recommended for symptomatic high risk celiac disease patients.
Natural History, Complications and Prognosis
Diagnosis
Diagnostic Criteria
The diagnosis of celiac disease is made when at least four of the following five or three out of four (if the HLA genotype is not performed) diagnostic criteria are met: typical symptoms (chronic diarrhea, chronic abdominal pain, malabsorption, bloating, constipation, failure to thrive/weight loss, anorexia, vomiting, GERD), serum positivity for Ig A autoantibodies at high titer, HLA-DQ2 or HLA-DQ8 genotypes, celiac enteropathy at the small intestinal biopsy, and response to gluten-free diet.
History and Symptoms
Physical Examination
Patients with celiac disease usually appear tired. Common physical examination findings of celiac disease include hepatosplenomegaly, abdominal tenderness with distention and scaly rash on extensor surfaces.
Laboratory Findings
Electrocardiogram
Chest X Ray
CT Scan
Echocardiography or Ultrasound
Other Imaging Findings
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Future or Investigational Therapies
References
- ↑ van Heel D, West J (2006). "Recent advances in coeliac disease". Gut. 55 (7): 1037–46. PMID 16766754.