BACKGROUND: Patients with celiac disease, who remain undiagnosed or asymptomatic in childhood, may present in adulthood with either typical or atypical features. METHODS: In a retrospective analysis, we reviewed the case records of 45 consecutive patients with celiac disease diagnosed in adulthood. The diagnosis of celiac disease was made on the basis of the modified European Society of Pediatric Gastroenterology, Hepatology and Nutrition criteria. The modes of presentation, clinical manifestations, endoscopic features and histological features were analyzed. RESULTS: The mean age of these patients at diagnosis was 28.7 (11.2) years. The median duration of symptoms before diagnosis was 2.5 years (range: 6 months to 40 years). Chronic diarrhea was the presenting manifestation in 20 (44%) patients only. Twenty-two (49%) patients were referred to us by hematologists, endocrinologists or gynecologists for evaluation of refractory anemia in 10 (2.2%), short stature in 6 (13.3%), metabolic bone disease in 2 (4.4%) and secondary infertility or delayed menarche in 4 (8.8%). Intestinal mucosal folds were scalloped in 31 (69%), attenuated in 34 (76%) and normal looking in 11 (24%) of them. Mild, moderate and severe villous abnormalities on intestinal mucosal biopsies were present in 10 (22.2%), 15 (33.3%) and 19 (42.2%) patients, respectively. CONCLUSIONS: More than half of adult patients with celiac disease present with atypical manifestations. A high index of suspicion is required for diagnosing variant forms of celiac disease in adults.
BACKGROUND:Patients with celiac disease, who remain undiagnosed or asymptomatic in childhood, may present in adulthood with either typical or atypical features. METHODS: In a retrospective analysis, we reviewed the case records of 45 consecutive patients with celiac disease diagnosed in adulthood. The diagnosis of celiac disease was made on the basis of the modified European Society of Pediatric Gastroenterology, Hepatology and Nutrition criteria. The modes of presentation, clinical manifestations, endoscopic features and histological features were analyzed. RESULTS: The mean age of these patients at diagnosis was 28.7 (11.2) years. The median duration of symptoms before diagnosis was 2.5 years (range: 6 months to 40 years). Chronic diarrhea was the presenting manifestation in 20 (44%) patients only. Twenty-two (49%) patients were referred to us by hematologists, endocrinologists or gynecologists for evaluation of refractory anemia in 10 (2.2%), short stature in 6 (13.3%), metabolic bone disease in 2 (4.4%) and secondary infertility or delayed menarche in 4 (8.8%). Intestinal mucosal folds were scalloped in 31 (69%), attenuated in 34 (76%) and normal looking in 11 (24%) of them. Mild, moderate and severe villous abnormalities on intestinal mucosal biopsies were present in 10 (22.2%), 15 (33.3%) and 19 (42.2%) patients, respectively. CONCLUSIONS: More than half of adult patients with celiac disease present with atypical manifestations. A high index of suspicion is required for diagnosing variant forms of celiac disease in adults.