Case Studies

 Case 14.3 Coeliac disease

A 35-year-old school cook presented to her dentist with a 30-month history of a sore mouth and tongue; she was treated with triamcinolone oral paste without improvement. Three months later she developed loose stools and generalized but vague abdominal pain. On questioning, she had felt tired for 2 years and had lost 8kg in weight during the preceding 6 months despite a good appetite. During her second and third pregnancies she had developed moderate folic acid-deficiency anaemia. There was no family history of gastrointestinal disease and no abnormalities were found on examination.

Laboratory investigations showed a macrocytic anaemia but normal white-cell, platelet and reticulocyte counts. The blood film showed many Howell-Jolly bodies (fragments of nuclear material within red blood cells), suggestive of hyposplenism. Bone marrow examination revealed active erythropoiesis with early megaloblastic features but no stainable iron. The appearances were those of a combined deficiency of iron and folate/vitamin B₁₂; laboratory tests confirmed this (Table C14.1). In view of the blood film and the malabsorption of fat, coeliac disease was the most likely diagnosis. Her serum was positive for IgA antibodies to endomysium and she had high levels of IgA and IgG antibodies to gliadin, strongly supporting the clinical diagnosis. A jejunal biopsy was performed: this showed a convoluted pattern of stunted villi under the dissecting microscope, and subtotal villous atrophy with marked increase in intraepithelial lymphocytes and chronic inflammation in the lamina propria.

The patient was started on a strict gluten-free diet with folic acid, iron and calcium supplements. One year later she had put on 4.8kg. A repeat jejunal biopsy showed improvement in villous architecture. This improvement following gluten withdrawal confirmed the diagnosis of coeliac disease and the patient will continue her gluten-free diet for life.

Table C14.1 Laboratory investigation in Case 14.3.