Celiac disease (CD) is “a permanent sensitivity to gluten
in wheat and related proteins found in barley and rye, occurring
in genetically susceptible individuals, and manifesting as an immune mediated
enteropathy as defined by characteristic changes seen on intestinal
histology.”1 A conservative
definition requires the following:
- typical signs or symptoms;
- presence of CD-associated antibodies;
- a small intestinal biopsy showing villous atrophy;
- resolution of clinical manifestations with a gluten-free diet
(GFD), including complete healing of the intestinal mucosa;
- reduction or disappearance of the CD-associated antibodies
on a GFD.
In practice, it is questionable whether it is necessary to meet
all aspects of this definition. Controversy continues about whether
a small bowel biopsy is required to diagnose CD. Because of numerous
reports of CD-associated seropositive individuals with no signs
or symptoms of CD, guidelines continue to require a biopsy to confirm
the diagnosis and need for treatment.
Different terms have been applied to common clinical situations:
- Classic CD refers to a presentation
with typical clinical features such as diarrhea, abdominal pain,
failure to thrive, or abdominal distention.
- Atypical CD describes a non-traditional
presentation, primarily with extraintestinal manifestations, such
as arthritis or iron deficiency anemia. In older children and adults,
the atypical presentation may be more common than the “classic” presentation.
- Silent CD describes the situation
of an individual without signs or symptoms of CD, but who has small bowel
biopsy evidence of CD; usually these patients have an associated
condition or a family history of CD, and are identified on screening
as having CD-associated antibodies.
- Latent CD applies to individuals
without signs or symptoms of CD, but who have some risk for future
development of CD, such as expression of CD-related antibodies or
DQ2 or DQ8 permissive genes, family history of CD, or having an
associated condition. These individuals do not have small bowel
biopsy changes, but may have CD-associated antibodies.
- Refractory CD describes an individual
with defined CD who continues to have signs or symptoms of active
CD despite pursuing a GFD. In this situation, considerations include
considered exposure to gluten, enteropathy-associated T-cell lymphoma
(EATL), or possibly another condition such as allergy or inflammatory
The prevalence in the United States and Europe is roughly 3–13
cases per 1000 individuals (1:300 to 1:80).1 There is a
female predominance with a ratio of roughly 2:1.2 These
estimates indicate that there are approximately 3 million people
with CD in the United States alone, and a roughly equal number in
Europe, of which 90% are undiagnosed (Table 18–1). Recent
screening studies suggest that in developing countries in Africa,
parts of Asia, and South America, the frequency is similar to that
of the U.S. and European countries.3 To date, there are
very little data exploring the rates of CD in China, Japan, and
Southeast Asian countries, and these populations are thought to ...