Should relatives of coeliacs with mild clinical complaints undergo a small-bowel biopsy despite negative serology?

Background and objectives Small intestinal lesions in coeliac disease (CD) have a variable severity. Early diagnosis of CD is important because treatm ent allows a normal psyche-physical development, especially in children, an d can avoid associated disorders. The aim of this study was to evaluate the predictive value of screening parameters for the detection and estimation of CD prevalence in first-degree relatives. Methods The screening was performed in 338 first-degree relatives of 134 co eliac families. Questionnaires and a physical examination followed by haema tological analyses and serology for IgA anti-endomysium (EMA)/IgA antigliad in (AGA) antibodies were used in order to select the candidates for small-b owel biopsy, The small-bowel biopsy was indicated on the basis of clinical complaints, laboratory tests and serology performed in 96 (28%) of the stud y group. Results CD was diagnosed in 17/96 cases. Six of the 17 showed total villous atrophy (VA) (Marsh IIIc), five subtotal VA (Marsh IIIb) and six partial V A (Marsh IIIa). EMA and AGA were strongly positive in the six patients whos e intestinal biopsy showed total VA. However, only one coeliac out of the s ix patients with partial VA had positive EMA and AGA. Conclusion A significant proportion of coeliacs may be missed if cases are screened by serology only. Although endomysial antibody assay has been repo rted as a highly sensitive and specific test for detection of CD, we argue that using only EMA and AGA in screening is not enough for investigation of the true prevalence of CD. A combination of clinical parameters as describ ed in this study and laboratory/serological tests is an important and pract ical contribution to improving the detection rate of CD. (C) 2000 Lippincot t Williams & Wilkins.