Celiac disease is a chronic immune-mediated disease triggered by ingesting gluten. It damages the small intestine and affects absorption of nutrients. It has various presentations from classic malabsorption to atypical symptoms. Diagnosis requires specific serology tests and biopsy showing intestinal damage. Treatment is lifelong adherence to a gluten-free diet to heal and maintain the health of the small intestine.

1. CELIAC DISEASE
Dr. SUNIL KUMAR

2. DEFINITION
• Celiac disease is a chronic, small intestinal, immune-mediated enteropathy
that is precipitated by dietary gluten in genetically predisposed individuals.
• Gluten - complex of water-insoluble proteins from wheat, rye, and barley .
• Other names –
- celiac sprue
- gluten-sensitive enteropathy
- nontropical sprue
- celiac syndrome,
- adult celiac disease,
- idiopathic steatorrhea, and primary malabsorption.

3. • Typical celiac disease (classical celiac disease)- clinical presentation with signs
and symptoms of malabsorption such as diarrhea, steatorrhea,weight loss, and
nutritional deficiencies
• Atypical celiac disease- anemia, fatigue, abdominal bloating and discomfort,
osteoporosis, or infertility.
• Asymptomatic celiac disease (silent celiac disease) identified by screening
using celiac-specific serology but lack symptoms or signs of celiac disease.
• Potential celiac disease (latent celiac disease)- normal small intestinal histology
who are at increased risk of developing celiac disease (usually identified by positive
celiac-specific serology).
• Nonresponsive celiac disease - ongoing or recurrent symptoms or signs that
suggest active celiac disease despite a strict GFD for more than 6 to 12 months.
• Refractory celiac disease (a subset of nonresponsive celiac disease) is defined
as symptomatic, severe small intestinal villus atrophy despite a strict GFD for more
than 6 to 12 months.
• Non-celiac gluten sensitivity - symptoms or signs that develop upon gluten ingestion in
people in whom a diagnosis of celiac disease has been excluded.

4. PATHOLOGY
• Celiac disease affects the mucosa of the small intestine; the
submucosa, muscularis propria, and serosa usually are not involved
• Flat mucosal surface with complete absence of normal intestinal villi
• Loss of normal villus structure & intestinal crypts are markedly
elongated.
• The total thickness of the mucosa may be reduced only slightly,
because crypt hyperplasia compensates for the absence or shortening
of the villi.
• The cellularity of the lamina propria is increased in involved small
intestine. The cellular infiltrate consists largely of plasma cells and
lymphocytes

6. Stage 0 - normal, pre-infiltrative mucosa
Stage 1 - an increase in IELs(intraepithelial lymphocytes), followed
by infiltration of the lamina propria with lymphocytes.
Stage 2 - crypt hyperplasia
Stage 3 - villus atrophy
Stage 4 - total mucosal atrophy develops and is characterized by
complete loss of villi,enhanced apoptosis, and crypt hyperplasia

7. Environmental Factors
• Wheat protein categorized into 4 general groups based on solubility
characteristics:
1. Prolamins
2. Glutenins
3. Globulins
4. Albumins
• The term Gluten encompasses both the prolamins and the glutenins.
• The prolamins of wheat are referred to as gliadins.
• Prolamins from other cereals also are considered to be gluten and are
named according to their source (secalins from rye, hordeins from barley,
avenins from oats, and zeins from corn)

9. CLINICAL FEATURES
Childhood Presentation
• The classic presentation of celiac disease in infancy is with diarrhea, steatorrhea,
and occasional cramping abdominal pain that can occur any time after cereals are
introduced into the diet, but especially in early childhood.
• Classically, the child fails to thrive, is apathetic and irritable, and has muscle
wasting, hypotonia, and abdominal distention.
• Possibility of gluten sensitivity should be considered in all children who present
with short stature or failure to thrive
• Once a GFD is commenced, catch-up growth is well documented.
• Nutritional deficiencies, particularly anemia,are another common mode of
presentation, especially in older children.
• Many pediatric patients enjoy a temporary, spontaneous remission of symptoms
during adolescence.

10. Adulthood Presentation
• Overall mean age at presentation is approximately 45 years.
• Diarrhea now is reported less often, and many patients present
with higher body mass indices
• A proportion of these adult patients have short stature or give a
history consistent with unrecognized celiac disease in childhood.
• Approximately 25% of cases diagnosed in patients older than 60
years.

11. GI Features
• Many adults present with GI symptoms including diarrhea, steatorrhea,
abdominal bloating, flatulence, and weight loss similar to those seen in childhood
celiac disease.
• Nocturnal, early morning, and postprandial diarrhea are common.
• Steatorrhea often is absent in patients with disease that is limited to the proximal
small intestine
• Vague abdominal discomfort and especially abdominal bloating are extremely
common and can lead to a mistaken diagnosis of IBS
• Abdominal distention with excessive amounts of malodorous flatus is a common
complaint.
• Symptoms of GERD may be significantly more common in untreated celiac
disease and improve on a GFD.
• Recurrent, severe, aphthous stomatitis affects many celiac patients, may
be their sole presenting complaint and typically resolves on a GFD.

13. DIAGNOSIS
• Specific celiac serology tests and small intestinal biopsy are the most
reliable diagnostic tests for celiac disease.
• Testing for HLA DQ2 and DQ8 may be useful to exclude celiac disease in
specific clinical circumstances.
• The single most useful test for diagnosis and for monitoring of celiac
disease is IgA tTG assay.
• Immunoglobulin A Endomysial Antibody-IgA EMA has a sensitivity of
90% or greater and a specificity approaching 100% in untreated celiac
disease.

17. TREATMENT
Gluten-Free Diet
• Removal of gluten from the diet is essential for treating patients with
celiac disease.