Celiac Disease - NIH Consensus Development Program - National ...

pubertal delay, iron deficiency, dental enamel defects, and abnormalities in liver function test).Atypical presentation is usually encountered in association with the late onset of complaints,particularly in older children. Dermatitis herpetiformis, a blistering skin disease, is presentlyregarded as a variant of CD.CD is defined as silent whenever a typical gluten-sensitive enteropathy is found in asubject who is apparently healthy. Large numbers of silent cases of CD have been reported in atriskgroups (such as subjects with insulin-dependent diabetes and first-degree relatives) and ingeneral population samples enrolled in screening programs. An indepth clinical examinationshows that many of these “silent” cases are indeed affected with a low-grade intensity illnessoften associated with decreased psychophysical well-being.Finally, a potential form of CD is diagnosed in subjects showing positivity of EMAand/or anti-tTG antibodies, the typical HLA predisposing genotype (DQ2 or DQ8), but a normalor minimally abnormal mucosal architecture (increased IEL count) at the intestinal biopsy. Thesecases are at risk of developing a typical CD enteropathy later in life.Untreated CD is associated with a list of diseases and complications (1) (table 2). Thepossible association with Down syndrome is well known. Two recent studies provided furtherevidence of an increased prevalence of CD in Down syndrome in the United States, with areported frequency of this disease association of 3.2–10.3 percent, respectively. (8,9) In Downsyndrome children, CD is not detectable on the basis of clinical findings alone and is thereforeunderdetected. Even when there are symptoms, they may be considered clinically insignificant orpossibly attributed to Down syndrome itself. Nevertheless, the reported resolution orimprovement of gastrointestinal complaints on a GFD for all symptomatic patients suggest thatidentification and treatment can improve the quality of life for these children.Table 2. Associated DiseasesAssociated DiseasesDown syndromeTurner syndromeWilliams syndromeIgA deficiencyAssociated Diseases Possibly Secondary to Untreated CDAutoimmune diseases (e.g., type 1 diabetes, thyroiditis, hepatitis,primary biliary chirrosis)Epilepsy with or without occipital calcificationsAtaxia and other neurological disturbancesIgA nephropathyAn increasing number of studies show that many CD-associated problems that wereoriginally described mostly in adults can indeed be observed in children or adolescents. (7)Osteoporosis is one of the well-known complications of untreated CD in adults. Several studiesshowed that bone mineral content, bone area, and bone mineral density could be significantlylower in CD adolescents than in controls. Further, it has been reported that a complete recoveryof bone density can occur after 1 year of GFD, and maintenance of normal bone mineral densityis achieved after long-term treatment. In the last decade, there has been an explosion of intereston the neurological manifestations associated with CD. The existence of a syndromecharacterized by epilepsy, occipital calcifications, and CD is generally accepted. The strongassociation with autoimmune diseases, including type 1 diabetes (10,11) and thyroid disease (11) has62