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Essay: Celiac disease – duodenal biopsy

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  • Published: 15 October 2019*
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  • Words: 1,459 (approx)
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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.(Castilio, Natalia E; Theethira, G Thimmaiah; Leffler , A Daniel, 2014)

Purpose

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)

Celiac 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)

Results

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 the celiac disease has done to the villi usually a biopsy is prescribed 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.

Summary

• Significant 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 awareness

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

• Serologic 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

 

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