Page 2 - 04- Celiac Disease

CELIAC DISEASE
Lloyd A. Runser, MD, MPH, FAAFP Radoslava Djigrova

BASICS

DESCRIPTION
An immune-mediated reaction to dietary gluten (found in wheat, barley, rye) primarily
affecting the small intestine in genetically predisposed individuals. Affected individuals
cannot tolerate gliadin (a component of gluten found in rye, barley, and wheat)
Presentations
– Typical
Diarrheal illness characterized by villous atrophy with symptoms of malabsorption
(steatorrhea, weight loss, vitamin deficiencies, anemia); resolves with a gluten-free diet
(GFD)
<50% of adults present with gastrointestinal (GI) symptoms.
– Atypical
Minor GI symptoms, with a myriad of extraintestinal manifestations (e.g., anemia, liver
function tests, dental enamel defects, neurologic symptoms, infertility)
– Asymptomatic (silent) disease
Found when screening first-degree relatives
Positive laboratory tests and genetics, without signs/symptoms; normal histology on
biopsy
System(s) affected: GI
Synonym(s): celiac sprue; gluten-sensitive enteropathy
EPIDEMIOLOGY

Incidence
1 to 13/100,000 worldwide (1)
6.5/100,000 in United States (2)
Primarily affects those of Northern European ancestry
Predominant sex: female > male (3:2)
Prevalence
0.7% in the United States; an estimated 3 million Americans have celiac disease (3).
8 to 204/100,000 worldwide (1)

ETIOLOGY AND PATHOPHYSIOLOGY
Sensitivity to gluten, specifically gliadin protein fraction. Tissue transglutaminase (tTG)
modification of the gliadin protein leads to immunologic cross-reactivity, inflammation, and
tissue damage (villous atrophy) with subsequent GI symptoms and malabsorption.

Genetics
Homogeneity for HLA-DQ2/DQ8 increases risk of celiac disease and enteropathy-associated T-
cell lymphoma.

RISK FACTORS