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celiac disease

Bowl of lentils

Celiac Disease is an immune related gastro-intestinal condition, caused by intolerance to gluten. This abnormal immune response to gluten causes inflammation of the mucosal lining of the small intestine resulting in atrophy or damage of the villi which are small structures in the intestine which are vital for proper nutrient absorption. This results in malabsorption of nutrients, causing many health problems and giving rise to symptoms such as diarrhoea, abdominal discomfort, flatulence, anaemia, weight loss and bone problems among others.

genetic susceptibility

Celiac Disease is a hereditary disorder caused by sensitivity to the gliadin fraction of gluten. This is a protein component found in wheat. Similar proteins are present in rye and barley and to a lesser extent in oats. Not all people with the disorder are sensitive to oats.

prevalence

Celiac disease mainly affects whites of northern European descent. Prevalence Estimated numbers based on serologic screens (sometimes confirmed by biopsy) indicate that the disorder is present in about 1/300 in Europe and perhaps 1/250 in the US overall. The disease affects about 10 to 20% of 1st-degree relatives. Female to male ratio is 2:1. Onset is generally in childhood but may occur later.

signs and symptoms

Some patients do not display any significant symptoms and may only have signs of nutritional deficiency. Others have significant gastrointestinal symptoms. Celiac disease can manifest in infancy and childhood after introduction of cereals into the diet.

in children

The child fails to thrive and presents with symptoms such as apathy, anorexia, pallor, generalized hypotonia, abdominal distension, and muscle wasting. Stools are soft, bulky, clay-coloured, and offensive. Older children may present with anaemia or failure to grow normally.

in adults

Weakness, lassitude, and anorexia are most common.The presenting symptom may be mild and intermittent diarrhoea. Steatorrhea (fatty stools) ranges from mild to severe. Some patients have weight loss, rarely enough to become underweight. Anaemia, angular stomatitis, and mouth ulcers are usually seen in these patients. Manifestations of vitamin D and Calcium deficiencies (eg, osteomalacia, osteopenia, osteoporosis) are also common. Both men and women may have reduced fertility.

About 10% have dermatitis like rash which is intensely itchy and is symmetrically distributed over areas of the elbows, knees, buttocks, shoulders, and scalp. This rash can be induced by a high-gluten diet. Celiac disease is also associated with diabetes mellitus, autoimmune thyroid disease, and Down Syndrome.

diagnosis

Because biopsy lacks specificity, serologic markers can aid diagnosis. Anti-tissue transglutaminase antibody (AGA) and anti-endomysial antibody (EMA—an antibody against an intestinal connective tissue protein) each have sensitivity and specificity > 90%. These markers can also be used to screen populations with high prevalence of celiac disease, including 1st-degree relatives of affected patients and patients with diseases that occur at a greater frequency in association with celiac disease. If either test is positive, the patient should have a diagnostic small-bowel biopsy. Biopsies show characteristic though not specific pathologic changes of villous atrophy. Also, celiac disease should be strongly considered in a patient with iron deficiency without obvious GI bleeding.

treatment

Treatment is a gluten-free diet (avoiding foods containing wheat, rye, or barley and oats). Gluten is so widely used (eg, in commercial soups, sauces, ice creams, hot dogs) that a patient needs a detailed list of foods to avoid. The response to a gluten-free diet is usually rapid, and symptoms resolve in 1 to 2 wk. Ingesting even small amounts of food containing gluten may prevent remission or induce relapse. Supplements may be necessary to replace any serious nutritional deficiencies.

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