Introduction by gluten in genetically predisposed individuals. In celiac


Celiac disease is a lifelong autoimmune disease caused by gluten in
genetically predisposed individuals. In celiac disease the immune system
mistakenly attack itself and this immune systems activation results in
intestinal damage and a wide range of clinical manifestations. The prevalence
of this condition has been estimated to approximate 0.5%-1% in different parts
of the world (N Gujral, H J Freeman, A BR
Thomson, 2012) resulting from both environmental
(gluten) and genetic factors. Symptoms
include diarrhoea and abdominal pain, nausea, constipation, bloating, excess gas, tiredness, anaemia,
weight loss, hair loss, painful mouth sores, stomatitis, itching spots (COELIAC, 2017) However, the
lack of significant symptoms still refers to underdiagnosing. One of the
easiest visible symptoms is Dermatitis herpetiformis the skin manifestation of
coeliac disease. However, patients with celiac, having diabetes or thyroid
disorders and even rheumatoid arthritis, can be often found as in general
population. The
problem with celiac disease is that common or typical symptoms do not always
develop so it can lead to misdiagnosis or underdiagnosing. (Alessio Fasano, 2012) Celiac disease is chronic,
immune-mediated enteropathy of the small intestine. It is an exposure to
dietary gluten in genetically pre-disposed individuals (Castilio,
Natalia E; Theethira, G Thimmaiah; Leffler , A Daniel, 2014)

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The purpose of my
research is to analyse importance of understanding and diagnosing necessity for
confirming the celiac disease with duodenal biopsy in patients with symptoms of
celiac disease. The guidelines provided for Diagnosis of CD
requires duodenal biopsy when the patient is on a usual, unchanged diet
containing gluten and for the most of adult patients also positive serology (BSG, 2014)

Materials and methods

          What is gluten and what does it do

Gluten is the name
for complex proteins which are found in crop grains, most common it is in wheat,
buckwheat, barley, rye and oats. In the grain the gluten is important as it helps maintain their shape. Gluten
is something like “glue” for the grain. In nearly 80 % of proteins found in
grains gliadin and glutenin. In human body these two substances binds to the
serotypes formed from the DQ2 and DQ8 genes (Mattes, 2011).  There is relevance between those with celiac
disease carrying one or both of DQ2 and DQ8 genes, however up to 25-30% of the
general population caries DQ2 and DQ8 so the risk of developing celiac disease
is 3% however the general population risk is 1%. That is for sure, the carrying
DQ2 or DQ8, or both is not a diagnosis yet and this is not a precondition the
person will ever develop celiac disease. However, having these genes, it is
more likely to develop celiac disease as it is genetic and might be inherited.
In the risk group there are family members – parents, siblings, children, who
have the same genotype as the family member with celiac disease, have up to a
40% higher risk of developing celiac disease. (Mattes, 2011)


Disease Iceberg Model and

 The asymptomatic of celiac disease can be the
main reason for misdiagnosis. Celiac Iceberg (Logan, 2007) which was first
described by British epidemiologist Logan, clearly shows how little a patient
has symptomatic and so we can say that only 1% from patients are diagnosed. The
development of diagnostics, the deeper understanding about genes and the
processes in human body, gives more ways to diagnose the diseases like celiac. The
algorithm provided can help to diagnose and manage patients having CD symptoms (NIHCE, 2017)

Blood test for serological
confirmation or gut biopsy, or better both

There are many discussions based on Holmes research.
The research was done in Derby (Holmes, 2017). In his research
Holmes try to proof importance of serological screening for celiac disease and
the hypothesis the serological confirmation is enough sure to use as
confirmation for diagnosis. His research is based on fact how important is
enzyme tissue transglutaminase (tTG). This enzyme normally is found in the gut
and interacts with gluten protein. However, in certain cases the immune system
produces a class of antibodies named immunoglobulin A (IgA) to fight infection.
 In case of celiac disease, the body particularly
produce IgA antibodies that bind with their own TTG. In serological testing
there is a high level of IgA anti-TTG, and, based on Holme’s research that
could predict celiac disease for sure. During his work, he found in the samples
taken from patients suspected to having celiac disease, antibody levels were 10
times higher the upper limit of normal patients’ antibodies samples. After that
he published idea which many gastroenterologists very upset. He said a biopsy
is no more unnecessary to confirm diagnosis. Even more he said the quality of samples,
the tissue must be correctly preserved and oriented, so the damage is visible. When
they are sent to a lab where pathologists look for damage. Performed studies
have shown the procedure can lead to error as gastroenterologists do not always
take enough samples to detect celiac disease in every patient. Triumphantly he
declared  that up to 70 percent of celiac
patients can be diagnosed and confirmed with no gut biopsy. However, it is
still Holme’s ideas, and BSG still say that most significant (see image) change
is flattening of the villi- gut lining increasing surface area. In celiac
disease they are shortened or flattened them completely, so the body need more time
to absorb enough nutrients. To confirm the celiac diagnosis, pathologists look
(and it is done with gut biopsy) is there these significant damages found. Deviation
may occur in other conditions too, but very rare. Collection and preparation of
samples raise concerns even among biopsy top specialists. To last say again, Holmes
points to the fact that typical flattening may provide a clear diagnosis, but
with moderate damage the cause is unclear (Holmes, 2017)



Accordingly, to research papers and data found about
prevalence of celiac, I can say the differential diagnostics for celiac has
been taking a long time. The timeline starts with an important 1880, when there
has been a found malabsorption triggered by food. In 1940-50 Gluten dietary
trigger and first gluten free diets took a place. In only1960-70 was beginning
of biomarkers to recognise flattened villi and Autoimmune Symptomatic Celiac
Disease has been discovered. This was a huge jump as technological improvement
allow to do findings in cellular level to see the difference how villus is affected.
The detection path of the disease starts
with separation of common symptoms. The next stage is a simple blood test
looking for certain antibodies. To confirm the damage to the villi is usually
performed a biopsy using gastrointestinal endoscopy. Most extensive research
done in England (Holmes, 2017) shows trends in
diagnosis of coeliac disease in patients attending a single centre 1958–2014. prevalence
and incidence in Derby city over 50 years There is a link between deprivation
and prevalence as well. There was found a dramatic increase in number of
patients with celiac which requires to understand the challenges for follow-up
and new models of care need to be explored.

Celiac disease relation with other systems

Celiac Disease occures
within the digestive system which in human body is responsible for absorbsion
of nutrients. The digestive system works closely with the circulatory system to
get the nutrients around the body. Having disease inhibits  body’s ability to absorb vital nutrients.
However, failure to get vitamins, minerals, fiber, sugars, and fats from the
food deprives other systems like skeletal (ostheoporosis, short stature),
integumentary (skin, vitamin D intake), and generally affects tissues, organs,
muscles, and also brain from getting what they need to function properly. For
infants and young children celiac disease can cause a failure to grow at a normal
rate. Affected body feels malnourished and its does not matter how much the
child consumes. In adults it can be seen often as weakness and fatigue because
the digestive system is unable to properly absorb iron. Sleletal system is
affected,  bones can  become brittle because of  lack of calcium and also may occure diabetes
due to sugar imbalances. The inability to absorb vitamin B-12 can cause damage
to the nervous system and  resulting in a
tingling sensation in the limbs. Women may have affected reproductve system like
having irregular menstrual cycle problems with conceiving. All its results from
an insufficient supply of hormones to the reproductive organs.


increase of celiac disease requires to understand
the causes of the trend and cope with the consequences

It is important
to understand the clinical problems what celiac disease can cause and raise

understanding of symptoms and the prevalence of disease can help to reduce
underdiagnosing of celiac disease

testing is very useful for screening patients with suspected celiac disease and
can help early diagnose high risk patients

Use of biopsy
is important to confirm celiac disease

The diagnostics
can help to start the gluten free diet and reduce effect on villus and other
bodies systems

Lifelong diet
can significantly improve patient life condition and wellbeing