Author Affiliations: Department of Gastroenterology, Beth Israel Deaconess Medical Center, and Department of Medicine, Harvard Medical School, Boston, Massachusetts.
Celiac disease is one of the most prevalent autoimmune gastrointestinal disorders, but as the case of Ms J illustrates, diagnosis is often delayed or missed. Based on serologic studies, the prevalence of celiac disease in many populations is estimated to be approximately 1% and has been increasing steadily over the last 50 years. Evaluation for celiac disease is generally straightforward and uses commonly available serologic tests; however, the signs and symptoms of celiac disease are nonspecific and highly heterogeneous, making diagnosis difficult. Although celiac disease is often considered a mild disorder treatable with simple dietary changes, in reality celiac disease imparts considerable risks, including reduced bone mineral density, impaired quality of life, and increased overall mortality. In addition, a gluten-free diet is highly burdensome and can profoundly affect patients and their families. For these reasons, care of individuals with celiac disease requires prompt diagnosis and ongoing multidisciplinary management.
Leffler D. Celiac Disease Diagnosis and ManagementA 46-Year-Old Woman With Anemia. JAMA. 2011;306(14):1582-1592. doi:10.1001/jama.2011.1312