A 46-year-old woman presents with fatigue and is found to have iron deficiency with anaemia. She has experienced intermittent episodes of mild diarrhoea for many years, previously diagnosed as irritable bowel syndrome and lactose intolerance. She has no current significant gastrointestinal symptoms such as diarrhoea, bloating, or abdominal pain. Examination reveals two oral aphthous ulcers and pallor. Abdominal examination is normal and results of faecal testing for occult blood are negative.
A 9-year-old boy presents with vomiting for 5 days. His sister, who has coeliac disease, has had similar symptoms. His growth has been normal and he has not experienced any other possible symptoms of coeliac disease, except for intermittent constipation. Immunoglobulin A-tissue transglutaminase titre is 5 times the upper limit of normal.
Atypical presentations include an asymptomatic patient, elevated liver enzymes, vitamin D deficiency, osteopenia or osteoporosis, constipation, aphthous stomatitis, nausea or vomiting, heartburn or gastro-oesophageal reflux disease, hyposplenia or asplenia, myalgias, arthralgias, peripheral neuropathy, alopecia, headaches, infertility, and adverse pregnancy outcomes.
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