The Spectrum of Celiac Disease: Epidemiology, Clinical Aspects and Treatment

Greetje J. Tack; Wieke H. M. Verbeek; Marco W. J. Schreurs; Chris J. J. Mulder

In This Article

Clinical Presentation

Celiac disease has long been considered a pediatric syndrome, in which classical intestinal symptoms, including diarrhea, steatorrhea and weight loss predominate. However, the disease has been increasingly diagnosed in older children and adults and has emerged to encompass a broad spectrum of clinical manifestations (Box 1), which are associated with a large variety of changes in the mucosa of the small intestine.[10,11] About 50% of patients with celiac disease present with atypical symptoms, such as anemia, osteoporosis, dermatitis herpetiformis, neurological problems and dental enamel hypoplasia.[15,42,43] The variable clinical picture of celiac disease is thought to have both genetic and immunological bases. Age of onset, extent of mucosal injury and dietary habits, but also gender,[44] seem to affect the clinical manifestation of the disease.

The spectrum of celiac disease currently encompasses four different types of which clinicians should be aware.[45] The classical form, which is mainly diagnosed between 6 and 18 months of age, is characterized by villous atrophy and typical symptoms of intestinal malabsorption. The atypical form is characterized by architectural abnormalities of the small intestinal mucosa and minor intestinal symptoms. Patients with this form present predominantly with various extraintestinal signs and symptoms, such as osteoporosis, peripheral neuropathy, anemia and infertility. The latent form is defined by presence of HLA-DQ2 and/or HLA-DQ8 molecules, normal architecture of the intestinal mucosa and possibly positive serology. Extraintestinal signs and symptoms may or may not occur. In this form of disease, the gluten-dependent changes appear later in life. The silent form is marked by small intestinal mucosal abnormalities and in most cases by positive celiac-disease-associated serology, but is apparently asymptomatic.

Patients with the nonclassical forms of the disease are usually detected by screening of high-risk populations or during upper-endoscopic analysis for other reasons. After starting a gluten-free diet, the majority of patients, irrespective of the clinical presentation, will notice improvement of their physical and psychological condition.[46] This improvement indicates that these asymptomatic, apparently healthy individuals are indeed affected by minor, unrecognized illness features such as lack of appetite, behavioral abnormalities and fatigue, which are most likely to be consequences of the presence of the disease for years.

The prevalence of several autoimmune diseases, predominantly organ-specific diseases, is higher in patients with celiac disease than in the general population (Box 1).[47] First-degree relatives of and patients with Down, Turner or Williams syndromes are also at increased risk for the development of celiac disease.[48]


Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.
Post as: