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Coeliac disease 

Coeliac disease

Chapter:
Coeliac disease
Author(s):

Patrick C.A. Dubois

and David A. van Heel

DOI:
10.1093/med/9780199204854.003.151003_update_001

Update:

Additional information on duodenal bulb biopsies, anti-deamidated gliadin peptide (DGP) antibodies, and pneumococcal vaccination.

A relevant case history has been added.

Updated on 28 Nov 2012. The previous version of this content can be found here.
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date: 30 March 2017

Coeliac disease is a common disorder of the small intestine in which storage proteins in dietary wheat, rye, and barley (gliadin, secalins, hordeins, usually referred to as ‘gluten’) induce T-cell responses restricted by HLA DQ2 or DQ8. This immune response drives intestinal inflammation and loss of villous architecture and can lead to a wide spectrum of clinical manifestations.

The condition presents most commonly either in early childhood or in the third or fourth decade of life. A ‘classical’ malabsorption syndrome characterized by diarrhoea, steatorrhoea, weight loss, fatigue, and anaemia may occur in severe cases, but is now rare: most patients have a milder constellation of symptoms such as abdominal discomfort, bloating, indigestion or nongastrointestinal symptoms (e.g. dermatitis herpetiformis), and many have no symptoms at all.

Diagnosis is made by serological testing for antitissue transglutaminase/antiendomysial antibodies, which have excellent sensitivity and specificity. About 1% of the (white European origin) population have positive coeliac serology, but many are undiagnosed. Positive serological tests should be followed by small intestinal biopsy, whilst a normal (gluten containing) diet is continued, looking for histological features of intraepithelial lymphocytosis, chronic immune cell infiltration of the lamina propria, loss of villous height (villous atrophy), and crypt hyperplasia.

Treatment is by strict avoidance of dietary wheat, rye, and barley (a gluten-free diet), which is safe and usually effective, but constitutes a major challenge for some people. Most patients (but not all) can eat pure oats. Screening for osteoporosis, vitamin D deficiency, and osteomalacia is advised, with treatment if indicated.

Intestinal complications include enteropathy-associated T-cell lymphoma, which should be considered particularly in older patients experiencing a clinical relapse in symptoms, despite effective gluten exclusion, after a prolonged period of clinical response. The overall prognosis of coeliac disease is excellent, but requires lifelong commitment to a gluten-free diet to reduce the risk of complications.

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