CHROMOSOME ABERRATIONS IN PATIENTS WITH COELIAC DISEASE (CD)

Abstract

According to one study performed so far, there is an increased chromosome instability in adult coeliac patients compared to healthy controls, which may be related to higher frequency of malignancies, known to occur in those patients (1). No similar work has been done in children. We have, therefore conducted a prospective study with the aim to assess the frequency of chromosome aberrations in peripheral blood lymphocytes in children with untreated CD and to compare it to healthy controls and to infants with other chronic enteropathies. Chromosomal studies were performed in: a) 18 children with untreated coeliac disease confirmed by a typical jejunal biopsy and a good recovery on a gluten-free diet; b) 13 healthy controls, and c) 10 infants with chronic diarrhoea of non-coeliac origin. Chromosomes were analysed in peripheral blood lymphocytes. 100 Giemsa-stained metaphases were studied for each individual by a single cytogenetist who was blinded to the source of the cells, and was not involved in the treatment of the patients. The three groups were compared according to number of aberrant cells and the total number of aberrations (gaps and breaks). Results, A. The total number of chromosome aberrations was: i) significantly higher in CD patients compared to healthy controls (p<0.001); ii) significantly higher in infants with other chronic enteropathies compared to healthy controls (p < 0.01); iii) not different in patients with CD compared to patients with other chronic diarrhoea (p > 0.05). B. The number of aberrant lymphocytes was: i) increased in patients with CD compared to healthy controls (p < 0.01); ii) not significantly different between patients with CD and other enteropathies (p > 0.05); iii) significantly increased in infants with chronic non-coeliac diarrhoea compared to healthy controls (p < 0.05). In conclusion, according to the results obtained it may be possible that chronic intestinal inflammation, and not exclusively CD is related to the increased level of chromosome aberrations, and is inducing genomic instability.