Gastrointestinal System

Celiac disease: overview

Celiac disease is an autoimmune disorder characterized by hypersensitivity to gluten, a protein found in wheat, barley, rye, and some types of oats. While most cases start in childhood, the disease may commence at any age.

Gluten hypersensitivity primarily involves the gastrointestinal tract. The abnormal immune response leads to damage of the intestinal lining, giving rise to the symptoms of malabsorption classically associated with celiac disease. The skin may also be affected, manifesting as dermatitis herpetiformis.

Celiac disease: anti-tissue transglutaminase antibodies

Tissue transglutaminase is believed to modify gluten peptides into a form that is antigenic; it is also believed to act as an autoantigen by itself.

Anti-tissue transglutaminase IgA antibody assays have a high sensitivity and specificity for detection of celiac disease, making them an appropriate screening tool for the condition.

False negatives are possible in individuals with low IgA levels, and also in persons with minimal intestinal damage. In the latter group, the sensitivity drops from 88% to a mere 40%.

Celiac disease: confirmation

As per guidelines by the American College of Gastroenterology (ACG), confirmation of celiac disease requires both positive serology and a jejunal or distal duodenal biopsy depicting classical changes of the condition.

Genetic analysis (i.e., DQ2/DQ8 genetic testing) should not be used for initial diagnosis. Instead, it is an option in persons with discordant serology and biopsy results; and in individuals who are already on a gluten-free diet, but who show little or no response to a gluten challenge.

Celiac disease: the Marsh classification

The Marsh classification is used to determine the severity of celiac disease. This makes use of duodenal biopsy findings, as follows:

Marsh 0: normal mucosal architecture without significant intraepithelial lymphocytic infiltration.

Marsh I: lymphocytic enteritis

Marsh II: lymphocytic enteritis and crypt hyperplasia

Marsh III: all the findings in II above, plus villous atrophy of any severity

Three substages of Marsh III exist:

Marsh IIIA: partial villous atrophy

Marsh IIIB: subtotal villous atrophy

Marsh IIIC: Total villous atrophy

Celiac disease: management

The treatment of celiac disease requires removal of gluten from the diet. Liaison with a dietician is important to help patients sustain a gluten-free diet while maintaining adequate nutrition.

In refractory cases, immune modulators may be required to slow down disease progression.

Celiac disease: associated conditions

Type I diabetes mellitus is the most common condition associated with celiac disease. Other known associations are autoimmune thyroid disorders, autoimmune hepatitis, ataxia, epilepsy, and infertility.

Down syndrome and Turner syndrome have also been noted to be associated with celiac disease.

Dermatitis herpetiformis

Dermatitis herpetiformis is a skin manifestation of gluten hypersensitivity. This presents as grouped vesicles with an erythematous base that are seen mostly on the knees, elbows, and buttocks. The lesions grow centrifugally and are intensely itchy.

The treatment is the same as for celiac disease, i.e. a gluten-free diet. In refractory cases, dapsone may be used. Other potential drugs include colchicine, nicotinamide, tetracycline, and sulfapyridine.

Celiac disease: monitoring response

In patients with celiac disease, response to therapy is monitored by checking for the resolution of symptoms and by demonstrating reductions in antibody levels over time. Patients should be monitored every 3 to 6 months until symptoms and test results normalize, and then every 1 to 2 years.

Endoscopy should also be performed every 1 to 2 years following the initial diagnosis. Liver and thyroid function tests should also be performed at the same frequency.


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