Gluten-Sensitive Enteropathy
(Coeliac Disease)
Objectives
Clinical presentations, diagnosis, D.D, complications and management.
• An autoimmune inflammatory disease of the small intestine that is
precipitated by the ingestion of gluten, a component of wheat protein,
in genetically susceptible persons.
• Recent studies in the United States suggest that the prevalence of
celiac disease is approximately one case per 250 persons and as many
as 1 in 100 UK school age children may be antibody positive for celiac
disease.
• Gluten-sensitive enteropathy commonly manifests as “silent”celiac
disease (i.e., minimal or no symptoms)
• Serologic tests for antibodies against endomysium, transglutaminase,
and gliadin identify most patients with the disease.
• Serologic testing should be considered in patients who are at increased
genetic risk for gluten-sensitive enteropathy (i.e., family history of
celiac disease or personal history of type I diabetes) and in patients who
have chronic diarrhea, unexplained anemia, chronic fatigue, or
unexplained weight loss.
Clinical Presentation
The “classic” form typically presents in infancy at 8-24 months
manifests as failure to thrive, diarrhea, abdominal distention, wasted
buttock abnormal stools and irritability .
Beyond infancy, the symptoms of celiac disease tend to be less
dramatic. mild non specific GI symptoms ,anemia (iron and or folate
def.) and growth flattering , or is identified on screening of children at
increase risk (Type 1 diabetes mellitus ,Autoimmune thyroid disease ,
down syndrome) and first degree relatives with known coeliac disease
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Silent celiac disease
A number of investigators believe that clinically apparent gluten-
sensitive enteropathy represents the “tip of the iceberg” of the overall
disease burden. Patients who were detected in the seroprevalence
studies were asymptomatic or oligosymptomatic (so-called
“silent”celiac disease).
Diagnosis
Serologic tests
When the diagnosis of gluten-sensitive enteropathy is suspected,
serologic tests can identify many affected patients.
It is important to note that 2 to 3 percent of patients with gluten-
sensitive enteropathy also have selective IgA deficiency.
Antibody test Sensitivity Specificity
(%) (%)
IgA antiendomysial antibody 85 to 100 96 to 100
90
IgA antitransglutaminase antibody 95
IgA antigliadin antibody 53 to 100 65 to 100
IgG antigliadin antibody 57 to 100 42 to 98
Distal duodenal biopsy
Is the gold standard for the diagnosis of celiac disease. Biopsy should
be performed in most patients with suspected gluten-sensitive
enteropathy. The characteristic features of villous flattening, crypt
hyperplasia, and increased intraepithelial lymphocytes were shown to
normalize after the institution of a gluten free diet.
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Abnormal Laboratory Findings in Celiac Disease
Laboratory findings Pathophysiology
*Anemia Iron deficiency; vitamin B12
and/or folate deficiency
*Elevated alkaline Osteoporosis, osteomalacia
phosphatase
Minimal elevation common
*Elevated aspartate ; presumably autoimmune
transaminase Malnutrition
and alanine transaminase Vitamin D deficiency, secondary
levels hyperparathyroidism
*Decreased albumin level General inflammatory reaction
Elevated calcium level, Decreased vitamin K absorption
decreased phosphate level Decreased fat absorption,
Thrombocytosis, decreased hepatic lipoprotein
leukocytosis production
Coagulopathy
Low high-density and
low-density
lipoprotein cholesterol
levels
Complications
Osteoporosis : due Calcium and vitamin D malabsorption
Neurologic manifestations
• Cerebral calcifications and epilepsy
• Peripheral neuropathy, postural instability, “gluten ataxia,”
• vague neurological complaints may be the sole manifestation
• gluten-sensitive enteropathy
Refractory sprue
In patients with refractory sprue, gastrointestinal tract inflammation
continues despite maintenance of a gluten free diet. Dietary
noncompliance is the most common reason for persistent inflammation;
Lymphoma and bowel adenocarcinoma
Enteropathy-associated T-cell lymphoma has been associated with
untreated gluten-sensitive enteropathy and refractory sprue. Lymphoma
may develop in patients with celiac disease who also have dermatitis
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herpetiformis. Studies have shown that maintenance of a long term
gluten-free state reduces the risk of lymphoma to the level in the
general population. Patients with celiac disease are also at risk for the
development of bowel adenocarcinoma in all sites.
Laboratory Evaluation of Patients with Newly Diagnosed
Celiac Disease
Hematology
Complete blood cell count
Platelet count
Laboratory tests
Iron level, total iron-binding capacity determination, ferritin
level*
Vitamin B12 and folate levels
Calcium and phosphate levels
Alkaline phosphatase level
Blood urea nitrogen and creatinine levels
Albumin and total serum protein levels
Aspartate transaminase and alanine transaminase levels
Imaging
Dual energy x-ray absorptiometry (DEXA) of spine and hip
Serologic tests†
Quantitative IgA antiendomysial antibody or quantitative
IgAantitransglutaminase
Quantitative IgA and IgG antigliadin antibodies
Management
Once the diagnosis of celiac disease has been made, patients should be
evaluated for known manifestations and complications.
• Iron deficiency should be treated with supplemental iron
• Osteoporosis should be treated with calcium and vitamin D
replacement.
• Depending on individual factors, patients with gluten-sensitive
enteropathy may need to take a multivitamin, iron, calcium,
magnesium, zinc, selenium, vitamin D, or other nutrients.
• The primary treatment for celiac disease is the removal of gluten and
related proteins from the diet.
• Complete exclusion of dietary gluten generally results in rapid and
complete healing of small-bowel inflammation.
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• Advice from a dietitian is essential , diet free from wheat, rye and
barley result in resolution of symptoms .Meats, vegetables, fruit, and
most dairy products are free of gluten, as long as they have not been
contaminated during production
Key message
Although the diagnosis is strongly suggested by positive serology,
confirmation depend upon the demonstration of flat mucosa on jejunal
biopsy followed by the resolution of symptoms and catch growth upon
gluten free diet .There is no place for empirical use of gluten -free diet
as a diagnostic test for celiac disease in the absence of jejunal biopsy .
Serological tests are not considered sufficiently sensitive and specific
to replace biopsy as the diet is being lifelong.
Reference
Nelson text book of pediatric -web sites
Illustrated text book of pediatric
