Celiac disease summary
Definition
Autoimmune disorder characterized by an intestinal hypersensitivity to gluten, a grain protein
Epidemiology
Sex: ♀ > ♂
Age of onset
The disease can occur at any age.
(Peak incidence is bimodal: At 8–12
months (or 2–3 months following the first
exposure to gluten through diet containing
wheat) and Third to fourth decade of life)
Prevalence: in the US ∼ 1:150
Race: more common in individuals
of northern European descent
Etiology
1. Genetic predisposition with association
to HLA antigens
HLA-DQ2 in 90–95% of patients
HLA-DQ8 in 5–10% of patients
2. Consuming gliadin from grains such as wheat, rye, and barley leads to an autoimmune reaction
within the small intestinal wall.
Pathophysiology (see the image)
Consumption of food containing gluten → tissue transglutaminase is released →
modifies gliadin from gluten proteins → pathogenic T cells react to and are activated by
modified gliadin → mediate chronic intestinal inflammation → epithelial damage resulting
in villous atrophy, crypt hyperplasia, and loss of brush border → impaired resorption of nutrients in
the small intestine (especially in the distal duodenum and proximal jejunum) → malabsorption symptoms
Clinical features
1: Gastrointestinal symptoms (mostly at age 6-24 months)
I. Chronic or recurring diarrhea: steatorrhea
II. Flatulence, abdominal bloating
III. Abdominal pain
IV. Nausea/vomiting
V. Lack of appetite
VI. Constipation (rarely)
2: Extraintestinal symptoms and associations (older child to adults)
I. Malabsorption symptoms: fatigue, weight
loss, vitamin deficiency, irondeficiency anemia, osteoporosis, hypocalcemia
II. In children: failure to thrive, growth failure, delayed puberty, secondary hyperparathyroidism
Definition
Autoimmune disorder characterized by an intestinal hypersensitivity to gluten, a grain protein
Epidemiology
Sex: ♀ > ♂
Age of onset
The disease can occur at any age.
(Peak incidence is bimodal: At 8–12
months (or 2–3 months following the first
exposure to gluten through diet containing
wheat) and Third to fourth decade of life)
Prevalence: in the US ∼ 1:150
Race: more common in individuals
of northern European descent
Etiology
1. Genetic predisposition with association
to HLA antigens
HLA-DQ2 in 90–95% of patients
HLA-DQ8 in 5–10% of patients
2. Consuming gliadin from grains such as wheat, rye, and barley leads to an autoimmune reaction
within the small intestinal wall.
Pathophysiology (see the image)
Consumption of food containing gluten → tissue transglutaminase is released →
modifies gliadin from gluten proteins → pathogenic T cells react to and are activated by
modified gliadin → mediate chronic intestinal inflammation → epithelial damage resulting
in villous atrophy, crypt hyperplasia, and loss of brush border → impaired resorption of nutrients in
the small intestine (especially in the distal duodenum and proximal jejunum) → malabsorption symptoms
Clinical features
1: Gastrointestinal symptoms (mostly at age 6-24 months)
I. Chronic or recurring diarrhea: steatorrhea
II. Flatulence, abdominal bloating
III. Abdominal pain
IV. Nausea/vomiting
V. Lack of appetite
VI. Constipation (rarely)
2: Extraintestinal symptoms and associations (older child to adults)
I. Malabsorption symptoms: fatigue, weight
loss, vitamin deficiency, irondeficiency anemia, osteoporosis, hypocalcemia
II. In children: failure to thrive, growth failure, delayed puberty, secondary hyperparathyroidism
