CELIAC DISEASE

What is the celiac disease?

The disease affects the small intestine the part of the digestive system responsible for absorbing nutrients .

In a person with celiac disease , the lining of small intestine is damaged by gluten . gluten is a protein component of wheat ,rye, barley and oats.

Celiac disease is caused by an interaction between gluten ( the protein portion of wheat) and the small bowel lining in people susceptible to the disease.

The cause damage to lining which results in a reduction in the surface area of the villi or finger-like projections of the bowel lining .

History of Celiac DiseaseCeliac disease was first described in the second century

but it wasn't until the 20th century that primary factors were identified .The first description of childhood and adult coeliac disease was written in Greek by the physician Aretaeus of Cappodocia. His writings survived and were translated into English by Francis Adams for the Sydenham Society in 1856.

Epidemiology

The “old” Celiac Disease Epidemiology:_ Was considered a rare disorder ._ A disease of essentially European origin

•The “new” Celiac Disease Epidemiology:Celiac Disease Prevalence Data

Geographic Area

Prevalence on clinical diagnosis*

Prevalence on screening data

Brazil ? 1:400

Denmark 1:10,000 1:500

Finland 1:1,000 1:130

Germany 1:2,300 1:500

Italy 1:1,000 1:184

Netherlands 1:4,500 1:198

Norway 1:675 1:250

Sahara ? 1:70

Slovenia ? 1:550

Sweden 1:330 1:190

United Kingdom

1:300 1:112

USA 1:10,000 1:133

•Given the prevalence of celiac disease of 1:100, there are populations that are at an increased risk for disease, including patients with type 1 diabetes, autoimmune thyroid disease (both hyper- and hypothyroidism), relatives of patients with celiac disease and type 1 diabetes and patients with Turner and Down syndromes. Rates of celiac disease in these populations range from 5–10%.

What Causes Celiac Disease?

The exact cause of the disease is still being researched by the scientists but broadly it is said to be caused by a combination of environmental and genetic factors. When the person is sensitive towards gluten, the body’s immune system reacts adversely to the food containing it. Pertaining to the disease, the small finger-like projections in the small intestine, known as vili, get damaged and destroyed, leading to inability in digesting and absorbing the nutrients of the meal.Celiac disease runs in families. If the parent suffers from it, the probability of the child acquiring it is manifold.

the immune response mechanism Celiac Sprue (celiac disease, coeliac disease, and non-tropic

sprue) is a common, lifelong disorder with an incidence of about 1:100. The disease results from both a food hypersensitivity and an autoimmune condition; genetically predisposed individuals suffer an intestinal inflammatory response to ingested gluten from wheat and related proteins from barley and rye.

Long, proline-rich fragments of gluten survive digestion by luminal and brush-border enzymes; as a result, they are able to gain access to the lamina propria. Most gluten peptides that survive gastrointestinal breakdown are excellent substrates for transglutaminase 2 (TG2). The resulting deamidated products are recognized by CD4-positive T cells, when bound to Human leucocyte antigen (HLA)-DQ2 or HLA-DQ8 molecules on the cell surface of antigen-presenting cells.

Upon activation, gluten-reactive CD4-positive T cells produce interferon-gamma (IFN-gamma), which is a major Schematic depiction of factors that contribute to the development of celiac disease contributor to the development of the coeliac lesion; IFN-gamma is also produced by intra-epithelial T cells. Similarly, interleukin-15 (IL-15), produced by either mononuclear cells in the lamina propria or by enterocytes themselves, attracts T cells with the capacity to kill enterocytes. IL-15 production is stimulated by gluten in the intestine in coeliac disease.

Finally, B cells receive help from T cells to differentiate into plasma cells, which then produce autoantibodies against TG2.    Currently, the only treatment for Celiac Sprue is adherence to a strict gluten-free diet. Such a diet is difficult to maintain as gluten is the second most common food additive behind sucrose. Thus, there is an unmet need for alternative, nondietary therapies for coeliac disease.

Signs and Symptoms

Gastrointestinal (“classical”)

Non-gastrointestinal

( “atypical”)

Gastrointestinal (“Classic”)

Most common age of presentation: 6-24 months

1- Chronic or recurrent diarrhea2- Abdominal distension3- Anorexia4- Abdominal pain5- Vomiting 6- Constipation7- weight loss

Non-gastrointestinal

( “atypical”)

Most common age of presentation: older child to adult

1- Dermatitis Herpetiformis2- Osteopenia/Osteoporosis3- Iron-deficient anemia 4- Hepatitis5- Arthritis6- Delayed Puberty

Dermatitis herpetiformis

Complications list for Celiac Disease

Complications of Celiac Disease: Damage to the small intestine and the resulting problems with nutrient absorption put a person with celiac disease at risk for several diseases and health problems. The list of complications that have been mentioned in various sources for Celiac Disease includes: Lymphoma Adenocarcinoma Osteoporosis Miscarriage Congenital defects - in babies born to celiac mothers Short stature - if celiac causes malnutrition in childhood Seizures Anemia Lymphoma and adenocarcinoma are types of cancer that can develop in the intestine. Osteoporosis is a condition in which the bones become weak, brittle, and prone to breaking. Poor calcium absorption is a contributing factor to osteoporosis.

How is Celiac Disease Diagnosed?

Antibody Testing: Only A First Step To help diagnose celiac disease, physicians first test blood to measure levels of certain antibodies. These antibodies are anti-endomysium and anti-tissue transglutaminase. A positive antibody test indicates only that a person needs a biopsy; it is not a diagnosis in and of itself.Antibody tests measure your immune system’s response to gluten in the food you eat. Your doctor may order a panel of tests to aid in diagnosis, or order one or several to see if you may need further evaluation. The blood for these tests are usually sent to one of only a few labs in the country that are best suited for conducting the test and interpreting the results.

r :

Tests1- Total Serum IgA to test for IgA deficiency (this health condition can affect accuracy of antibody test)

2- Anti-endomysial antibody test (EMA-IgA) EMA-IgA are very specific for celiac disease but they are not as sensitive as the tTG-IgA.

Which tests do I need?

If my positive antibody test suggests I may have celiac disease, how do I find out for sure?

If antibody tests and/or symptoms suggest celiac disease, the physician needs to establish the diagnosis by obtaining tiny pieces of tissue from the small intestine to check for damage to the villi. This is done in an endoscopic biopsy procedure. The physician eases a long, thin tube called an endoscope through the mouth and stomach into the small intestine, and then takes samples of the tissue using instruments passed through the endoscope. Biopsy of the small intestine is the only way to diagnose celiac disease.

Why is it necessary to have the endoscopic biopsy?It is important to know that the blood testing can only confirm that you do not have celiac disease. This is why the biopsy is necessary if your test results are positive, to confirm the results.

The biopsy specimens are processed and viewed under the microscope to identify or exclude the typical mucosal damage of celiac disease.

Mutated gene for CELIAC DISEASE

Mutated gene for CELIAC DISEASE Called: CELIA

Gene.

The chromosome defected an lead to

disease is:

Chromosome no. 1,2,3,4,5,12,14 and 15.

mode of inheretance :

autosomal dominant

What is the effect of celiac disease on growth and glycemic control in patients with type 1 diabetes ?

Celiac.com 09/19/2012 - Researchers have documented rising rates of celiac disease in patients with type 1 diabetes (T1D). A research team recently tried to assess the effect of celiac disease on growth and glycemic control in patients with T1D, and to determine the effects of a gluten-free diet on these parameters.The research team included I. Taler, M. Phillip, Y. Lebenthal, L. de Vries, R. Shamir, and S. Shalitin. They are affiliated with the Department of Pediatrics B, Schneider Children's Medical Center of Israel in Petach Tikva, Israel.To do so, they conducted a longitudinal retrospective case-control study, in which they reviewed the medical data on 68 patients with T1D and duodenal-biopsy-confirmed celiac disease. They looked at weight, height, hemoglobin A1c (HbA1c), frequency of diabetic ketoacidosis (DKA), and severe hypoglycemic events before and after diagnosis and treatment of celiac disease.They then compared their findings with 131 patients with T1D alone, who were all matched for age, gender, and duration of diabetes.In all, 5.5% patients with T1D who attended the center during the study period were diagnosed with celiac disease, while 26% of the patients with celiac disease were symptomatic.

The data showed no significant differences in glycemic control or frequency of severe hypoglycemia or DKA events between the study group and control subjects.Body mass index-standard deviation score (SDS), height-SDS, and HbA1c values were insignificantly higher in the control group than in the study group, and similar in celiac disease patients with good or fair/poor adherence to a gluten-free diet during follow-up.Patients with T1D and celiac disease and following a gluten-free diet have growth and metabolic control similar to those with T1D with no celiac disease.To determine whether a gluten-free diet is appropriate for asymptomatic celiac patients or only symptomatic patients must be assessed against possible short- and long-term consequences of no intervention, and the decision should be based on more evidence from larger randomized studies.

What is the treatment of celiac disease?

There is no cure for celiac disease. The treatment of celiac disease is a gluten free diet.

The principles of a gluten free diet include:1- Avoid all foods made from wheat, rye, and barley. Examples are breads, cereals, pasta, crackers, cakes, pies, cookies, and gravies.

2- Pay attention to processed foods that may contain gluten. Wheat flour is a common ingredient in many processed foods. Examples of foods that may contain gluten, to name only a few, include:

-ice cream -Ketchup-Mustard-sausages -pasta

3- It is alright to consume fish, fresh meats, rice, corn, soybean, potato, poultry, fruits, vegetables, and dairy products

References http://www.medicinenet.com/celiac_disease/page8.htmhttp://www.cureresearch.com/c/celiac_disease/complic.htm http://www.nhs.uk/Conditions/Coeliac-disease/Pages/Diagnosis.aspx http://omim.org/entry/212750http://www.stanford.edu/group/khosla/Celiac_Sprue.htmlhttp://www.celiac.com/articles/23040/1/What-is-the-Effect-of-Celiac-Disease-on-Growth-and-Glycemic-Control-in-Patients-with-Type-1-Diabetes/Page1.html

Done by :

Fatimah Al-Homrani Amal Al-Ghamdi

Medical laboratory students at king Abdulaziz university #MED11