Celiac disease is a common cause of malabsorption of

one or more nutrients.

It is a common disease with protean manifestations, and

a worldwide distribution.

The etiology of celiac disease is not known, but

environmental, immunologic, and genetic factors are
important.
Clinical features
Celiac disease is considered an “iceberg” disease.
A small number of individuals have classical symptoms
and manifestations related to nutrient malabsorption
along with a varied natural history; the onset of
symptoms can occur at all points from the first year of
life through the eighth decade.

A much larger number of individuals have “atypical

celiac disease”, with manifestations that are not
obviously related to intestinal malabsorption (e.g.,
anemia, osteopenia, infertility, and neurologic
symptoms).
Coeliac disease can present at any age.
In infancy it occurs after weaning on to cereals and
typically presents with diarrhoea, malabsorption and
failure to thrive.
In older children it may present with non-specific
features such as delayed growth, and puberty.
Features of malnutrition are often found on
examination and mild abdominal distension may be
present.
Affected children have both growth and pubertal delay,
leading to short stature in adulthood.
In adults peak onset is in the third or fourth decade and
females are affected twice as often as males.

The presentation is highly variable, depending on the

severity and extent of small bowel involvement.

Some patients have florid malabsorption while others

develop nonspecific symptoms such as tiredness,
weight loss, folate deficiency or iron deficiency
anaemia.
Other recognised presentations include oral ulceration,
dyspepsia and bloating.

Unrecognised coeliac disease is associated with mild

under nutrition and increased risk of osteoporosis.

Coeliac disease is associated with other human leucocyte

antigen (HLA)-linked autoimmune disorders and with
certain other diseases.
Disease associations of coeliac disease
• Insulin-dependent diabetes mellitus (2–8%)
•Dermatitis herpetiformis
• Down’s syndrome
• Thyroid disease (5%) • Small bowel carcinoma
• Primary biliary • Ulcerative jejunitis
cirrhosis (3%) • Microscopic colitis
• Sjögren’s syndrome (3%) • Pancreatic insufficiency
• IgA deficiency (2%) • Splenic atrophy
• Pernicious anaemia • Enteropathy-associated
• Inflammatory bowel disease T-cell lymphoma
• Sarcoidosis • Squamous carcinoma of
• Myasthenia gravis oesophagus
• Neurological complications:
encephalopathy, cerebellar
atrophy, peripheral
neuropathy, epilepsy
Diagnosis
The diagnosis of celiac disease requires the detection of
characteristic histological changes on small-intestinal
biopsy together with a prompt clinical and histological
response after the institution of a gluten-free diet.

If IgA anti endomysial or tTG antibodies have been

detected in serologic studies, they too should
disappear after a gluten free diet is started.
Investigations
Duodenal biopsy
Endoscopic small bowel biopsy is the gold standard.

Since the presentation of celiac disease is often subtle,

without overt evidence of malabsorption or nutrient
deficiency, a relatively low threshold for biopsy
performance is important.

The histological features are usually characteristic but other

causes of villous atrophy should also be considered.

Sometimes the villi appear normal but there are excess

numbers of intra-epithelial lymphocytes present.
Important causes of subtotal villous atrophy
• Coeliac disease
• Tropical sprue
• Dermatitis herpetiformis
• Lymphoma
• AIDS enteropathy
• Giardiasis
• Hypogammaglobulinaemia
• Radiation
• Whipple’s disease
• Zollinger–Ellison syndrome
eosinophilic enteritis
Antibodies
IgA anti-endomysial antibodies are detectable by
Immunofluorescence in most untreated cases.
They are not quantitative, but are sensitive (85–95%)
and specific (approximately 99%) for the diagnosis,
except in very young infants.

IgG antibodies, however, must be analysed in patients

with coexisting IgA deficiency.
The tTG assay has replaced other blood tests in many
countries as it is easier to perform, semi-quantitative
and more accurate in patients with IgA deficiency.
These antibody tests constitute a valuable screening tool
in patients with diarrhoea but are not a substitute for
small bowel biopsy; they usually become negative with
successful treatment.
Haematology and biochemistry

A full blood count may show microcytic or macrocytic

anaemia from iron or folate deficiency and features of
hyposplenism (target cells, spherocytes and Howell–
Jolly bodies).

Biochemical tests may reveal reduced concentrations of

calcium, magnesium, total protein, albumin or
vitamin D.
Other investigations

Measurement of bone density should be considered to

look for evidence of osteoporosis, especially in older
patients and post-menopausal women.
Management
The aims are to correct existing deficiencies of iron,
folate, calcium and/or vitamin D, and to commence a
life-long gluten-free diet.

This requires the exclusion of wheat, rye, barley and

initially oats, although oats may be reintroduced safely
in most patients after 6–12 months.
refractory celiac disease or refractory Sprue
Rarely, patients are ‘refractory’ and require treatment
with corticosteroids or immunosuppressive drugs to
induce remission.
Dietary compliance should be carefully assessed in
patients who fail to respond, but if their diet is
satisfactory, other conditions such as pancreatic
insufficiency or microscopic colitis should be
sought, as should complications of coeliac
disease such as ulcerative jejunitis or enteropathy -
associated T-cell lymphoma.
Complications
Enteropathy -associated T-cell lymphoma. The
possibility of lymphoma must be considered whenever
a patient with celiac disease who has previously done
well on a gluten-free diet is no longer responsive to
gluten restriction.

Small bowel carcinoma and squamous carcinoma of the

oesophagus.

Ulcerative jejuno -ileitis.

Osteoporosis and osteomalacia.
 Thank You

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