Coeliac Disease

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Coeliac disease\: autoimmune disorder with gluten sensitivity; a
thirds of cases.
Diagnosis peaks\: infancy (solid food introduction) and 40-50 years; can be diagnosed at any age.
Pathophysiology\: gliadin (gluten component) triggers immune response, causing chronic in
and leading to malabsorption; almost all patients are HLA DQ2 or DQ8 positive.
Risk factors\: genetics (70% if monozygotic twin a
Down's, William's), type 1 diabetes (8%), IgA de
Symptoms in children\: failure to thrive, chronic diarrhoea, constipation, abdominal bloating, irritability, features of anaemia
(adolescents).
Symptoms in adults\: long-standing diarrhoea, nausea, vomiting, fatigue (often with iron-de
Associated conditions\: IgA de
hepatitis, IgA nephropathy, type 1 diabetes, other autoimmune conditions.
Examination
anaemia features.
Examination
herpetiformis.
Extra-intestinal manifestations\: arthritis, dermatitis herpetiformis, osteoporosis/osteopenia, infertility, ataxia, epilepsy,
anxiety, depression.
Investigations\:
Anti-tTG antibodies and total IgA count\: diagnostic if strongly positive; total IgA to rule out false negatives due to IgA
de
IgG EMA, IgG DGP, IgG tTG\: used if IgA de
Genetic HLA DQ2/DQ8 screen\: positive genetic testing supports diagnosis.
Duodenal biopsy\: villous atrophy, crypt cell hyperplasia, intraepithelial lymphocytosis, in
Di
intolerance, autoimmune enteropathy.
Management\: lifelong gluten-free diet, immunisations (pneumococcal every 5 years, annual
refer children to paediatric gastroenterologist.
Follow-up\: annual review of weight, height, symptoms, dietetic input; IgA tTG measurements for ongoing symptoms; less
frequent follow-up for well-controlled adults.
Complications\: hyposplenism, iron de
B12 and folate de
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A comprehensive topic overview

Introduction

Coeliac disease is an autoimmune disorder that is characterised by gluten sensitivity. It is one of the most prevalent
gastroenterological conditions worldwide in both children and adults.In the UK, around 1% of the population are a
1
Women are more likely to be a
2
There are two peak age periods seen in the diagnosis of coeliac disease. The
beginning to be exposed to solid foods containing gluten, and a second larger peak between 40-50 years old. However,
coeliac disease can be diagnosed at any age.
3,4

Aetiology

In coeliac disease, gliadin, a component of gluten, is not broken down fully and passes through the intestinal epithelial
layer triggering an immune response.
Gliadin binds to HLA DQ2 or DQ8 which activates T-cells in the intestinal mucosa leading to the immune response. The
immune response results in chronic in
resulting in malabsorption.
5
Almost all patients with coeliac disease are HLA DQ2 positive and many are also DQ8 positive.

Risk factors

There are a number of risk factors for coeliac disease. These factors, and the lifetime prevalence of developing coeliac
disease, are listed below\:
6
Genetics (around 70% if monozygotic twin a
Autoimmune thyroid disease (15%)
Genetic syndromes e.g. Down's and William's syndrome (up to 12%)
Type 1 diabetes mellitus (8%)
IgA de

Clinical features

History
The symptoms of coeliac disease can di
Typical symptoms of coeliac disease in children include\:
6
Failure to thrive (stunted growth, growth chart faltering)
Chronic diarrhoea
Constipation (coeliac disease should be considered whenever diagnosing idiopathic constipation)
Abdominal bloating
Irritability
Features of anaemia (adolescents)
Children normally present with these symptoms in the
Typical symptoms of coeliac disease in adults include\:
3
Long-standing diarrhoea (may be intermittent in nature)
Nausea and vomiting
Fatigue (patients often have underlying iron-de
Weight loss
Other important areas to cover in the history\:
Family history\: coeliac disease often runs in families and those with an a
a 10% chance of developing it.
7
Associated conditions\: there are a range of conditions that, if present, would increase the risk of coeliac disease. These
conditions are listed below.
7Conditions associated with coeliac disease
Mnemonic\: "I Don’t Take Apples, I Take Oranges"
IgA de
Down's syndrome
Turner's syndrome
Autoimmune thyroid disease and autoimmune hepatitis
IgA nephropathy
Type 1 diabetes mellitus
Other autoimmune conditions (e.g. Sjögren's, myasthenia gravis, Addison’s disease)
Clinical examination
The clinical features of coeliac di
coeliac disease should receive a thorough clinical examination.
Clinical features that may be identi
6
Failure to thrive (although less common due to increased calori
Abdominal distension
Abdominal pain
Muscle wasting (usually the buttocks are predominantly a
Features of anaemia (adolescents) e.g. angular cheilitis, fatigue and pallor
Clinical features that may be identi
3
Features of anaemia
Mouth ulcers
Weight loss (most adults will not experience signi
Anxiety features
Joint pain
Abdominal pain
Dermatitis herpetiformis
Extra-intestinal manifestations of coeliac disease
There is a range of extra-intestinal manifestations of coeliac disease and you should look out for these when taking
a medical history and examining patients. These features include\:
8
Arthritis
Dermatitis herpetiformis
Osteoporosis/osteopenia
Infertility
Ataxia
Epilepsy
Anxiety
Depression

Investigations

The diagnosis of coeliac disease is based on immunological investigation results and the histology of small bowel
biopsies.
Coeliac features are often non-speci
receive an antibody screen followed by a duodenal biopsy if appropriate.
1
The average time to diagnosis from
1
Laboratory investigations
Anti-tissue transglutaminase (tTG) antibodies and total IgA count\: anti-tTG antibodies are diagnostic of coeliac disease
if strongly positive. A total IgA count is required as an underlying IgA de
masking coeliac disease. 9
If TTG is 10x the upper limit of normal, a positive endomysial antibody (EMA) screen is
required.
IgG endomysial antibodies (EMA), IgG deamidated gliadin peptide (DGP) or IgG tTG\: in those who are IgA de
EMA, IgG DGP or IgG tTG can be used to diagnose coeliac disease. 9
Performing these tests
disease is not recommended.
Genetic HLA DQ2 and DQ8 screen\: currently, in the UK, positive genetic testing is also required, however, this is likely to
change over time as many patients who are HLA DQ2 and DQ8 positive do not have coeliac disease.
If TTG, EMA and genetic testing is positive, children do not require a duodenal biopsy and the diagnosis of coeliac disease
can be made.
6
Duodenal biopsy
If serology markers are positive, a small bowel biopsy is carried out by gastroenterology to support the diagnosis.
There are four key changes that are seen on duodenal biopsy in those with coeliac disease\:
10
Presence of villous atrophy leading to a
Crypt cell hyperplasia
Intraepithelial cell lymphocytosis
In
Figure 1. Normal duodenal biopsy.
11
The villous atrophy and the immunology
following the removal of gluten from the diet.
Therefore, those who have removed gluten from their diet and subsequently request testing, cannot be tested. You should
advise to reintroduce gluten into the diet and return in 6-8 weeks if a formal diagnosis is necessary.
1Di
There is a range of conditions that can present in a similar fashion to coeliac disease and which should be considered
during the diagnostic workup.
Some of the main di
13
Anorexia nervosa
Bacterial overgrowth of the small bowel
Crohn’s disease
Irritable bowel syndrome
Lactose intolerance
Autoimmune enteropathy

Management

Children with suspected coeliac disease should be referred to a paediatric gastroenterologist or an appropriate
paediatrician with a special interest in gastroenterology.
7
There are two key aspects of management in coeliac disease\:
Lifelong gluten-free diet\: foods containing gluten include rye, wheat, barley and oats. Dietetic input may be required
and should be considered case by case.
Immunisation\: individuals with coeliac disease often have functional hyposplenism (defective immune response) and
therefore require pneumococcal vaccines every 5 years. Yearly in
this is on a case by case basis.
Follow-up
for dietetic input.
9
Patients with coeliac disease should be followed up annually reviewing weight, height, ongoing symptoms and the need
In those with ongoing symptoms, IgA tTG measurements can be carried out to check for compliance with a gluten-free
diet. Adults with well-controlled disease may be followed up less frequently.
14

Complications

Untreated disease can result in numerous complications including\:
15
Hyposplenism (anatomical or functional)
Iron de
Malnutrition
Osteoporosis
Small bowel T-cell lymphoma
Vitamin B12 and folate de

References

Payne, D., 2018. C o e l i a c D i s e a s e . [online] Patient.info. Available from\: [LINK].
Singh, P., Arora, A., Strand, T., Le
Celiac Disease\: Systematic Review and Meta-analysis. C l i n i c a l G a s t r o e n t e r o l o g y a n d H e p a t o l o gy , 16(6), pp.823-836.e2.
Green, P., 2005. The many faces of celiac disease\: Clinical presentation of celiac disease in the adult population.
G a s t r o e n t e r o l o g y , 128(4), pp.S74-S78.
Green, P., Stavropoulos, S., Panagi, S., Goldstein, S., McMahon, D., Absan, H. and Neugut, A., 2001. Characteristics of adult
celiac disease in the USA\: results of a national survey. T h e A m e r i c a n J o u r n a l o f G a s t r o e n t e r o l o g y , 96(1), pp.126-131.Pelkowski, T., 2014. Celiac Disease\: Diagnosis and Management. A m e r i c a n F a m i l y P h y s i c i a n , 89(2), pp.99-105.
Coeliac UK. 2013. B S P G H A N G u i d e l i n e s F o r D i a g n o s i s O f C o e l i a c D i s e a s e I n C h i l d r e n . [online] Available at\:
\<https\:/ /www.coeliac.org.uk/document-library/122-bspghan/> [Accessed 22 June 2020].
nhs.uk. 2019. C o e l i a c D i s e a s e - C a u s e s . [online] Available from\: [LINK].
Barker, J. and Liu, E., 2008. Celiac Disease\: Pathophysiology, Clinical Manifestations, and Associated Autoimmune
Conditions. A d v a n c e s i n P e d i a t r i c s , 55(1), pp.349-365.
National Institute for Health and Care Excellence. 2015. O v e r v i e w | C o e l i a c D i s e a s e \: R e c o g n i t i o n , A s s e s s m e n t a n d
M a n a g e m e n t | G u i d a n c e | N I C E . [online] Available from\: [LINK].
Kamboj, A. and Oxentenko, A., 2017. Clinical and Histologic Mimickers of Celiac Disease. C l i n i c a l a n d T r a n s l a t i o n a l
G a s t r o e n t e r o l o g y , 8(8), p.e114.
CoRus13. D u o d e n a l b i o p s y s h o w i n g n o r m a l m u c o s a . License\: [CC-BY-SA]. Available from\: [LINK].
CoRus13. G l u t e n-s e n s i t i v e e n t e r o p a t h y ( M a r s h 3 c ) . License\: [CC-BY-SA]. Available from\: [LINK].
Presutti, R., Cangemi, J., Cassidy, H. and Hill, D., 2008. Celiac Disease. A m e r i c a n f a m i l y p h y s i c i a n , 76(12), pp.1795-802.
Caio, G., Volta, U., Sapone, A., Le
current review. B M C M e d i c i n e , 17(142).
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Reviewer

Dr Owen Wilson
ST3 Paediatrics

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Contents

Introduction
Aetiology
Risk factors
Clinical features
Investigations
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