Celiac disease phenotype | Definition | Comments |
Classic | Individual meets standard criteria for celiac disease* and has signs of malabsorption such as diarrhea, steatorrhea, weight loss, or growth failure. | More common in children diagnosed in early childhood. Children in this category may or may not have extraintestinal manifestations. |
Nonclassic | Individual meets standard criteria for celiac disease* but without signs and symptoms of malabsorption. | Symptoms are often extraintestinal and may be monosymptomatic. This phenotype is more common in older children. |
Subclinical | Individual meets standard criteria for celiac disease* but has symptoms that are below the threshold of clinical detection and would not otherwise trigger testing in routine practice. | In the past, the term "silent" was used. After beginning a gluten-free diet, many of these individuals experience improvement and thus retrospectively recognize that they had been experiencing subclinical symptoms. |
Symptomatic | A general term describing celiac disease with gastrointestinal or extraintestinal symptoms (in contrast with asymptomatic celiac disease, described below). | In the past, the term "overt" celiac disease was used, but this term is now discouraged. |
Asymptomatic | Individual meets standard criteria for celiac disease* but experiences no related symptoms and does not notice any changes upon gluten withdrawal. | These individuals are often diagnosed through screening of high-risk groups¶ or from the general population. If symptoms are recognized to resolve upon gluten withdrawal, the patient should be reclassified as having subclinical celiac disease. |
Potential | Individual has positive celiac-specific antibodies (eg, anti-tTG) but normal small intestinal biopsies. | These celiac autoantibody-positive individuals are identified based on testing for clinical indications or because they are members of a group at increased risk for celiac disease¶. Some of these children (eg, 40% over 12 years of age[1]) will develop celiac disease, some will eventually become seronegative, and some will remain persistently seropositive and not progress to celiac disease[1-3]. |
tTG: tissue transglutaminase immunoglobulin A antibody; IgA: immunoglobulin A.
* Standard criteria for diagnosis of celiac disease consist of a positive celiac specific antibody (usually tTG-IgA) and characteristic histologic abnormalities on intestinal biopsy (villous atrophy and elongated crypts). Refer to UpToDate content on diagnosis of celiac disease.
¶ High-risk groups include first- or second-degree relatives of probands with celiac disease, children with certain genetic syndromes (Down, Turner, or Williams syndromes), autoimmune diseases (type 1 diabetes, autoimmune thyroiditis, juvenile idiopathic arthritis, or autoimmune liver disease), or selective IgA deficiency.Do you want to add Medilib to your home screen?