Osteomalacia in a patient with unrecognized coeliac disease

Coeliac disease, involving the mucosa of the small intestine, is manifested by malabsorption syndrome of various severity. This auto­ immune disease is caused by the gliadin fraction of gluten in genetically predisposed individuals. The diagnosis of coeliac disease is made by biopsy detection of intestinal changes. Typically, these are various degrees of mucosal atrophy and round-cell infiltration, an increased number of intraepithelial lymphocytes and crypt hyperplasia. In the patients' serum, gliadin antibodies (AGA), endomysial antibodies (EmA) and tissue tranglutaminase antibodies (anti t-TG) are detected. Examination of the antibodies may detect even patients with silent or latent forms of the disease who have no or just uncharacteristic dyspeptic difficulties and osteoporosis or osteo­ malacia that cannot be explained by other causes. The management is based on gluten-free diet and replacement therapy. We present an unusual case report of a 72-year-old female patient with osteomalacia and multiple fractures, suffering from lifelong di­ arrhoea. The examination of antibodies and subsequent biopsy of the duodenal mucosa confirmed florid coeliac disease. The discus­ sion focuses on the individual types of antibodies - their sensitivity, specificity and effective utilization for screening.

Conclusions: The case report confirms the fact that even active forms of the disease may remain undetected until the advanced age. Although the definitive diagnosis of coeliac disease can only be made after histological assessment of the intestinal mucosa, the exa­ mination of antibodies (EmA, anti t-TG) is highly sensitive and specific for this disease. Because of the risk of osteoporosis-related frac­ tures and more frequent malignancies of the gastrointestinal tract, screening with these antibodies is recommended in patients with osteoporosis reporting diarrhoea orjust dyspeptic difficulties, in osteoporotic men and premenopausal women, in osteoporotic patients with sideropenic anaemia of unknown aetiology, and in relatives of coeliac patients.

Keywords: osteomalacia, osteoporosis, coeliac disease, antibodies