Celiac disease is an inflammatory disorder of the small bowel occurring in genetically susceptible individuals and it results from intolerance to the gluten component of the diet. These proteins are also found in Wheat, rye, barley, and to a lesser extent in oats. It can result in malabsorptive syndrome and responds to a gluten free diet. This condition occurs worldwide but is more common in Europeans.
The prevalence is more in the United Kingdom and 50% of these people are symptomless so celiac disease diagnosis is difficult in these symptomless patients. They include celiac disease undiagnosed which are called ‘silent cases’ of celiac disease and also ‘cases of latent celiac disease’ which means that these people are genetically susceptible and may later develop celiac disease and hence make them diagnosis difficult.
WHAT IS CELIAC DISEASE?
Celiac disease is an inflammatory disease that occurs in the small intestine. The people suffering from this disease have a genetic tendency to develop this disease and it occurs as a result of eating the‘ gluten component’ of the diet which is present in Wheat, Rye, and many other dietary products. These immunological responses due to gluten play a key role in causing inflammation of Small intestinal mucosa and cause disease. First degree relatives are more prone to disease. It occurs in HLA DQ2 and HLA DQ8 positive people.
Major Celiac Disease Diagnosis
celiac disease diagnosis is based on complete physical examination and the history which you will present to your doctor. The doctor will first ask you questions to compile your history for celiac disease diagnosis. he may ask you about
- the onset of disease
- if the start was sudden in onset or gradual
- he may ask about celiac disease Rash
- Intestinal symptoms you face
- change in stool frequency
- change in stool consistency
- if it occurs after eating wheat and it if it stops after eating rice
people suffering from Celiac disease have high titers of antibodies circulating in their blood. These antibodies are anti endomysial antibodies and Anti tissue transglutaminase antibody. these are diagnosed with the help of simple blood test which your doctor will offer. Your doctor may ask you to continue the gluten containing diet as the tests are more sensitive in periods of having gluten containing diet. Your doctor may recommend you not to start a gluten free diet unless the diagnosis results are positive.
1- Complete Blood Count:
Complete blood Examination is a screening test for celiac disease diagnosis. During complete blood count, the doctor will ask you to attend a laboratory worker and he will draw a sample of blood from your veins typically the elbow region. This test may be sometimes painful regarding celiac disease diagnosis as the puncture will cause pain but it will Heal on its own two to three days later. The test will help to diagnose anti endomysial antibodies and anti-tissue transglutaminase antibody in the blood samples of the people suffering from celiac disease.
A full blood count may also show anemia which may be microcytic anemia or macrocytic anemia. People may have iron or Folic acid deficiency which may be detected incomplete blood count for disease diagnosis. There may be signs of hyposplenism which include target cells, spherocytes, and Howell Jolly bodies in samples of blood for disease diagnosis.
2- Small Intestinal Biopsy
Small intestinal biopsy is the gold standard test for celiac disease diagnosis. it is a confirmatory test for the diagnosis and is performed with the help of an endoscopic camera which is a thin flexible tube with a light at one end and camera at other ends. This endoscope tube is inserted via mouth and is passed downwards to your intestine and your duodenal part of the intestine to obtain the sample of intestine for celiac disease diagnosis. Before starting the endoscopy, local or general anesthesia is given so as to relax the muscle groups from where the camera and tube are to be passed, a sedative also is given to relax you down.
Endoscopic appearance should not preclude biopsy as the mucosa may look normal. There may be patchy inflammation of the intestinal mucosa and more than 4 biopsies from the second part of the intestine and one from the duodenal bulb should be obtained for confirmation of disease diagnosis. You may see the atrophy of intestinal Villi and hypertrophy of the crypts in the mucosa. Sometimes the intestinal wall will appear normal but there is a large number of intraepithelial lymphocytes which are called ‘lymphocytic duodenitis’.
3- Antibodies Detection
Antibodies test is a screening test in patients with diarrhea or similar suggestive symptoms which are not Diagnostic substitutes for Small intestinal biopsy. Currently, 2 antibodies are detected which are tissue transglutaminase at anti endomysial antibodies. if the antibodies screen is positive the patient should remain on gluten free diet until a duodenal biopsy is taken which is a confirmatory test.
- ANTIENDOMYSIAL ANTIBODIES (AEA) class is detected by immunofluorescence in most untreated cases. these are 95% sensitive and 99% specific for celiac disease.
- TISSUE TRANSGLUTAMINASE ANTIBODY (tTGA) essay is a screening test for celiac disease diagnosis. It is the test of choice in many countries as it is easy to perform. It is Semi quantitative and has more than 95% specificity and more than 90% sensitivity. This is more accurate in patients who have IgA deficiency so is performed inpatient suffering from IgA deficiency for celiac disease diagnosis.
4- Biochemical Tests
Biochemical analysis for the disease diagnosis is considered. These biochemical tests include the reduced concentrations of calcium, magnesium, iron, protein, albumin, and Vitamin D. serum IgA measurement is also required so as to ensure an appropriate IgA response and to allow the proper celiac disease diagnosis.
5- Dexa San
Bone density and evidence of osteoporosis can be performed by performing DEXA scans in older patients and in females who are postmenopausal. It helps to relieve bone density, brittle bone disease, and osteoporosis as bone density is weakened in people suffering from celiac disease and it helps celiac disease diagnosis.
6- Evidence of Celiac Disease Rash
People suffering from celiac disease may also have the celiac disease rash on their elbows, knees, back, and abdomen. This Rash may also aid in disease diagnosis.
Celiac disease diagnosis is difficult in patients who are symptomless but there are many screening and confirmatory tests available for the disease diagnosis. These tests are performed without stopping gluten free diet as these are more reliable in the presence of gluten containing diet and help celiac disease diagnosis easier.