Materiały źródłowe

• #1 Celiac Disease: Diagnosis and Management | AAFP

  https://www.aafp.org/pubs/afp/issues/2014/0115/p99.html

  Celiac disease is an autoimmune disorder of the gastrointestinal tract. It is triggered by exposure to dietary gluten in genetically susceptible individuals. Gluten is a storage protein in wheat, rye, and barley, which are staples in many American diets. Celiac disease is characterized by chronic inflammation of the small intestinal mucosa, which leads to atrophy of the small intestinal villi and subsequent malabsorption. The condition may develop at any age. Intestinal manifestations include diarrhea and weight loss. Common extraintestinal manifestations include iron deficiency anemia, decreased bone mineral density, and neuropathy. Most cases of celiac disease are diagnosed in persons with extraintestinal manifestations. The presence of dermatitis herpetiformis is pathognomonic for celiac disease. Diagnosis is supported by a positive tissue transglutaminase serologic test but, in general, should be confirmed by a small bowel biopsy showing the characteristic histology associated with celiac disease.

• #2 Celiac Disease: Symptoms & How It’s Treated

  https://my.clevelandclinic.org/health/diseases/14240-celiac-disease

  Celiac disease is an inherited autoimmune disorder that causes a reaction in your body to the protein, gluten. Gluten in your digestive system triggers your immune system to produce antibodies against it. These antibodies damage the lining of your small intestine (the mucosa). Damage to the mucosa in your small intestine impairs its ability to absorb nutrients from your food, causing nutritional deficiencies. […] To diagnose celiac disease, healthcare providers will look for evidence of this damage. It’s important to get tested for celiac disease before you try a gluten-free diet, so the tests can reveal how gluten actually affects your body. […] Healthcare providers use two methods of testing for celiac disease. They prefer to use both together to confirm the diagnosis. The first is a blood test. Providers test your blood for antibodies to gluten. Then, they’ll look for the damage itself. This requires taking a small tissue sample from your small intestine (biopsy) to examine under a microscope.

• #3 Coeliac disease – Wikipedia

  https://en.wikipedia.org/wiki/Coeliac_disease

  Diagnosis is typically made by a combination of blood antibody tests and intestinal biopsies, helped by specific genetic testing. […] Making the diagnosis is not always straightforward. […] About 10% of the time, the autoantibodies in the blood are negative, and many people have only minor intestinal changes with normal villi. […] People may have severe symptoms and they may be investigated for years before a diagnosis is achieved. […] As a result of screening, the diagnosis is increasingly being made in people who have no symptoms. […] Evidence regarding the effects of screening, however, is currently insufficient to determine its usefulness. […] While the disease is caused by a permanent intolerance to gluten proteins, it is distinct from wheat allergy, which is much more rare.

• #4 Coeliac disease – Wikipedia

  https://en.wikipedia.org/wiki/Coeliac_disease

  The only known effective treatment is a strict lifelong gluten-free diet, which leads to recovery of the intestinal lining (mucous membrane), improves symptoms, and reduces the risk of developing complications in most people. […] It is estimated that 80% of cases remain undiagnosed, usually because of minimal or absent gastrointestinal complaints and lack of knowledge of symptoms and diagnostic criteria. […] Diagnosis is often difficult and as of 2019, there continues to be a lack of awareness among physicians about the variability of presentations of coeliac disease and the diagnostic criteria, such that most cases are diagnosed with great delay. […] Several tests can be used. […] The level of symptoms may determine the order of the tests, but all tests lose their usefulness if the person is already eating a gluten-free diet.

• #5 Coeliac disease | NHS inform

  https://www.nhsinform.scot/illnesses-and-conditions/stomach-liver-and-gastrointestinal-tract/coeliac-disease/coeliac-disease/

  Coeliac disease can be diagnosed at any age. […] Most people with coeliac disease have antibodies in their blood. The first stage in diagnosis is a simple blood test. The second stage might result in a biopsy, if necessary. […] Coeliac disease can be diagnosed at any age, and both children and adults can show symptoms. […] Delayed diagnosis is common. It can take an average of 13 years to diagnose. […] A blood test should be offered if you’ve any of the following: type 1 diabetes, autoimmune thyroid disease, dermatitis herpetiformis, irritable bowel syndrome (IBS), anaemia without an obvious cause, certain symptoms related to your digestive system such as frequent diarrhoea, abdominal pain or vomiting, nausea or sudden weight loss, close relatives (parents, siblings or children) with coeliac disease.

• #6 Tests & Diagnosis – Coeliac New Zealand

  https://coeliac.org.nz/get-diagnosed/

  A medical diagnosis of coeliac disease is key to managing and improving your health. If you suspect you have coeliac disease, it is important to first talk to your doctor. It can take some time before symptoms are identified as being caused by coeliac disease as not all people have typical symptoms. Indeed, some people have minimal or no symptoms. Because the presentation of coeliac disease is so variable, many people remain unaware that they have the disease. When talking with your doctor, its important to mention all symptoms youve noticed. Remember also to mention if a relative has coeliac disease or dermatitis herpertiformis, or if you or a family member has been treated for anaemia. People with a first-degree relative with coeliac disease (parent, child or sibling) have a 1 in 10 risk of also developing the disease. This will give your doctor the best information and help in planning the best tests to work out if you do have coeliac disease. Making a definitive and correct diagnosis is essential to ensure that you receive the correct treatment and management and enable access to benefits such as the Pharmac part-subsidy.

• #7

  https://www.nhs.uk/conditions/coeliac-disease/diagnosis/

  You should be tested for coeliac disease if you have any 1 of these symptoms: persistent unexplained gastrointestinal symptoms, such as diarrhoea, stomach ache and bloating […] Testing for coeliac disease involves having a blood test. You may also need a biopsy of the small intestine, to confirm the diagnosis. […] If coeliac disease antibodies are found in your blood, the GP will refer you to a doctor who specialises in stomach and bowel conditions (gastroenterologist). The specialist may arrange more blood tests, or a biopsy of your intestine. […] A biopsy can help confirm a diagnosis of coeliac disease. […] If you’re diagnosed with coeliac disease, you may also have other tests to assess how the condition has affected you.

• #8 Navigating coeliac disease diagnosis in primary care | British Journal of General Practice

  https://bjgp.org/content/74/739/52

  Coeliac disease (CD) is a common autoimmune condition that affects approximately 1% of the population worldwide. However, it is estimated that two thirds of patients with CD in the UK remain undiagnosed. CD can present at any age with a wide range of symptoms and signs, making recognition challenging. Traditionally, the diagnosis of CD requires serological testing followed by endoscopic biopsy while consuming a gluten-containing diet, as outlined in guidelines produced by the British Society of Gastroenterology (BSG) in 2014 and the National Institute for Health and Care Excellence (NICE) in 2015. There is variability in adherence to these guidelines in practice and clinical pathways are evolving. […] The work-up of CD in the UK usually begins in primary care. The first challenge is identifying patients with symptoms and risk factors of CD. Many CD symptoms are commonly seen in primary care and GPs need to be alert to the CD clinical chameleon. The second challenge is that current investigations require patients to be regularly consuming gluten for instance, some gluten in more than one meal per day for at least six weeks before testing. Self-initiated gluten restriction without medical advice is increasingly common and dietary history is key. Discussing the re-introduction of gluten into the diet for testing may be difficult for GPs. Re-introduction of gluten may not be an option for some patients as this may cause severe and debilitating symptoms, and they should be referred to a gastroenterology specialist. Those with positive serology who consumed gluten during serological testing then enter an indeterminate diagnostic space where there is uncertainty about necessity and timeline for endoscopic biopsy. For some patients this presents an opportunity for self-diagnosis and self-management, to see if commencing a gluten-free diet (GFD) has a beneficial impact. Although guidance advises continuing a gluten-containing diet until diagnosis is confirmed by a specialist, given current delays in endoscopy, GPs and patients have to navigate this mid-diagnostic phase together.

• #9 Approach to Diagnosis & Management of Celiac Disease – Walter Bushnell Healthcare Foundation

  https://wbhf.walterbushnell.com/publications/pedia-flash/item/82-approach-to-diagnosis-management-of-celiac-disease

  Celiac disease (CD) is an autoimmune disorder associated with malabsorption caused by permanent intolerance to gluten. […] Owing to high percentage of under diagnosed patients and the broad spectrum of clinical manifestations, it is necessary to follow appropriate and reliable diagnostic steps to reach a proper diagnosis of CD. […] It is recommended that CD must be considered in the differential diagnosis of children with: Failure to thrive and persistent diarrhoea, Other persisting GI symptoms, including recurrent abdominal pain, constipation and vomiting, Non-gastrointestinal symptoms of CD (dermatitis herpetiformis, dental enamel hypoplasia of permanent teeth, osteoporosis, short stature, delayed puberty and iron-deficient anaemia resistant to oral iron), Asymptomatic conditions associated with CD (type 1 diabetes mellitus, autoimmune thyroiditis, Down syndrome, Turner syndrome, Williams’s syndrome, selective IgA deficiency and first-degree relatives of celiac patients).

• #10 Celiac disease: Who should I test, and how? | Cleveland Clinic Journal of Medicine

  https://www.ccjm.org/content/90/6/349

  Nonclassical signs and symptoms of CD that warrant testing in the absence of a convincing alternative diagnosis or explanation include iron-deficiency anemia, chronically elevated serum transaminases with no alternative explanation, dyspepsia with postprandial abdominal discomfort and bloating, recurrent abdominal pain, chronic constipation, ataxia, epilepsy, peripheral neuropathy, infertility, recurrent miscarriages, delayed sexual maturity, short stature, early-onset osteoporosis, dental enamel hypoplasia, recurrent aphthous stomatitis, arthritis or arthralgia and myalgia, chronic fatigue, recurrent pancreatitis, and hyposplenism. […] High-risk groups with an increased incidence of CD that warrant testing include first-degree relatives of patients with CD and patients with Down syndrome, Turner syndrome, or Williams syndrome. High-risk groups also include patients with autoimmune conditions such as type 1 diabetes mellitus, autoimmune thyroid disease, autoimmune hepatitis, lupus erythematosus, and psoriasis, as well as those with microscopic colitis and selective IgA deficiency.

• #11 Diagnosis of celiac disease in adults – UpToDate

  https://www.uptodate.com/contents/diagnosis-of-celiac-disease-in-adults

  The benefit of population screening for asymptomatic celiac disease has not been demonstrated. However, guidelines suggest screening for celiac disease be considered in asymptomatic first-degree relatives of patients with a confirmed diagnosis of celiac disease. Serologic testing for celiac disease is recommended in adults with any of the following: […] Suggestive gastrointestinal symptoms — Gastrointestinal symptoms include chronic or recurrent diarrhea or constipation, malabsorption, unexpected weight loss, abdominal pain, distension, or bloating. Testing should therefore be performed in patients with symptoms suggestive of irritable bowel syndrome or refractory lactose intolerance. […] Extraintestinal signs/symptoms suggestive of celiac disease — Patients with extraintestinal symptoms, signs, or laboratory evidence for which celiac disease is a treatable cause. This includes patients without other explanations for iron deficiency anemia, folate or vitamin B12 deficiency, persistent elevation in serum aminotransferases, dermatitis herpetiformis, fatigue, recurrent headaches, recurrent fetal loss, low birthweight offspring, reduced fertility, persistent aphthous stomatitis, dental enamel hypoplasia, metabolic bone disease and premature osteoporosis, idiopathic peripheral neuropathy, or nonhereditary cerebellar ataxia.

• #12 Coeliac Disease (Causes, Symptoms and Treatment)

  https://patient.info/doctor/coeliac-disease-pro

  This is an immune-mediated, inflammatory systemic disorder provoked by gluten and related prolamines in genetically susceptible individuals, which can lead to malabsorption of nutrients. Gluten is a protein found in wheat, rye and barley. […] HLA typing indicating lack of DQ2 or DQ8 has a high negative predictive value, which may be useful if trying to exclude coeliac disease. […] Coeliac disease may present at any age. Coeliac disease can be difficult to recognise because of the wide variation in symptoms and signs. Many cases may be asymptomatic. There may be a very long delay from the onset of coeliac disease symptoms until the diagnosis is made. […] The National Institute for Health and Care Excellence (NICE) recommends that serological testing for coeliac disease should be offered for people: Who have persistent unexplained abdominal or gastrointestinal symptoms.

• #13 Celiac Disease Screening | Celiac Disease FoundationBack to HomeBack to HomeAbout the DiseaseGluten-Free ResourcesResearch ResourcesAdvocacy and Public PolicyJoin the EffortSupport the FoundationShare on FacebookShare on TwitterEmail this pageprinter-mini

  https://celiac.org/about-celiac-disease/screening-and-diagnosis/screening/

  A simple blood test is available to test for celiac disease. People with celiac disease who eat gluten have higher than normal levels of certain antibodies in their blood. These antibodies are produced by the immune system because it views gluten (the proteins found in wheat, rye, and barley) as a threat. You must be on a gluten-containing diet for antibody (blood) testing to be accurate. […] Children older than 3 and adults experiencing symptoms of celiac disease should be tested. First-degree relatives of people with celiac disease – parents, siblings and children have a 1 in 10 risk compared to 1 in 100 in the general population. […] For most children and adults, the best way to test for celiac disease is with the Tissue Transglutaminase IgA antibody (tTG-IgA), plus an IgA antibody in order to ensure that the patient generates enough of this antibody to render the celiac disease test accurate.

• #14 Celiac Disease (Sprue) Workup: Approach Considerations, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/171805-workup

  The European Society for the Study of Coeliac Disease (ESsCD) guidelines indicate the following individuals should be treated for celiac disease: Adult patients with symptoms, signs, or laboratory evidence suggestive of malabsorption: Test with serology for CD. Patients with unexplained elevation of serum aminotransferase levels: Exclude CD. Patients with type 1 diabetes: Screen regularly for CD. […] The ESsCD indicate the following for diagnostic confirmation of CD: Diagnostic confirmation of CD in adults and in some children should be based on clinical data, positive serology, and duodenal histology. Improvement of symptoms or exacerbation after gluten reintroduction has a very low predictive value for CD and should not be used for diagnosis in the absence of other supportive evidence. A positive CD-specific serology in patients with VA confirms the CD diagnosis. In case of an elevated TG2-titer and normal histology, a pathologist familiar with CD should review the biopsies. Repeat the biopsy after gluten challenge if the patient was not on gluten-containing diet before testing. HLA-DQ2/8 typing is mandatory. Testing for other antibodies (eg, DGP and/or endomysium [EMA]) may be of added value.

• #15 Celiac Disease Testing

  https://www.southcarolinablues.com/web/public/brands/medicalpolicy/external-policies/celiac-disease-testing/

  The ESsCD published guidelines on CD, including recommendations on serological and genetic testing. These recommendations are listed below: Adult patients with symptoms, signs or laboratory evidence suggestive of malabsorption should be tested with serology for CD. […] The NASSCD has also included the following comments with regards to its algorithm and suspicion of CD: Screening for celiac disease in high-risk asymptomatic populations is controversial due to unknown natural history and potential benefits. […] The AAFP stated the following: Immunoglobulin A tissue transglutaminase should be used as the first-line test for serologic diagnosis of suspected celiac disease. Small bowel biopsy should be used to confirm the diagnosis of celiac disease in most patients.

• #16 Celiac Disease Tests – NIDDK

  https://www.niddk.nih.gov/health-information/professionals/clinical-tools-patient-management/digestive-diseases/celiac-disease-health-care-professionals

  Health care professionals most often use serologic tests and intestinal biopsies to diagnose celiac disease. If serologic tests suggest that a patient could have celiac disease, health care professionals should then order intestinal biopsies to confirm the diagnosis. […] Ordering serologic tests is typically the first step in diagnosing celiac disease. […] Health care professionals may order the tTG-IgG test to help diagnose celiac disease in patients who have IgA deficiency. The tTG-IgG test is not useful in other circumstances. […] Health care professionals may use the EMA-IgA test after the tTG-IgA test to help make a diagnosis of celiac disease more certain. […] If serologic tests suggest that a patient could have celiac disease, health care professionals should order an upper GI endoscopy with biopsies of the duodenumincluding the duodenal bulb and distal duodenumto confirm the diagnosis.

• #17 Celiac Disease Screening | Celiac Disease FoundationBack to HomeBack to HomeAbout the DiseaseGluten-Free ResourcesResearch ResourcesAdvocacy and Public PolicyJoin the EffortSupport the FoundationShare on FacebookShare on TwitterEmail this pageprinter-mini

  https://celiac.org/about-celiac-disease/screening-and-diagnosis/screening/

  The tTG-IgA test will be positive in about 93% of patients with celiac disease who are on a gluten-containing diet. This refers to the test’s sensitivity, which measures how correctly it identifies those with the disease. […] There are other antibody tests available to double-check for potential false positives or false negatives, but because of potential for false antibody test results, a biopsy of the small intestine is the only way to diagnose celiac disease. […] If you are currently on a gluten-free diet, your physician may recommend a gluten challenge to allow antibodies to build in your bloodstream prior to testing. […] People with celiac disease carry one or both of the HLA DQ2 and DQ8 genes, but so does up to 25-30% of the general population. […] A negative gene test excludes the possibility of later developing celiac disease, so this can be valuable information for first-degree family members. […] Those on a gluten-free diet – celiac antibody blood testing is not accurate when diagnosis of celiac disease is not clear. […] Your physician should be able to order genetic testing. Genetic testing can be done by blood test, saliva test or cheek swab.

• #18 Diagnosis and monitoring of celiac disease: changing utility of serology and histologic measures – American Gastroenterological AssociationAGA Logo_Horizontal

  https://gastro.org/clinical-guidance/diagnosis-and-monitoring-of-celiac-disease-changing-utility-of-serology-and-histologic-measures/

  Best practices for diagnosing and managing celiac disease in adults as well as in children and adolescents. […] 1. Serology is a crucial component of the detection and diagnosis of celiac disease, particularly tissue transglutaminase-immunoglobulin A (TG2-IgA), IgA testing, and less frequently, endomysial IgA testing. […] 2. Thorough histological analysis of duodenal biopsies with Marsh classification, counting of lymphocytes per high-power field, and morphometry is important for diagnosis as well as for differential diagnosis. […] 2a. TG2-IgA, at high levels (> ×10 upper normal limit) is a reliable and accurate test for diagnosing active celiac disease. When such a strongly positive TG2-IgA is combined with a positive endomysial antibody in a second blood sample, the positive predictive value for celiac disease is virtually 100%. In adults, esophagogastroduodenoscopy (EGD) and duodenal biopsies may then be performed for purposes of differential diagnosis.

• #19 Coeliac disease – Wikipedia

  https://en.wikipedia.org/wiki/Coeliac_disease

  For those who have already started on a gluten-free diet, it may be necessary to perform a rechallenge with some gluten-containing food in one meal a day over six weeks before repeating the investigations. […] Serological blood tests are the first-line investigation required to make a diagnosis of coeliac disease. […] Its sensitivity correlates with the degree of histological lesions. […] People who present with minor damage to the small intestine may have seronegative findings so many patients with coeliac disease often are missed. […] In patients with villous atrophy, anti-endomysial (EMA) antibodies of the immunoglobulin A (IgA) type can detect coeliac disease with a sensitivity and specificity of 90% and 99%, respectively. […] Serology for anti-transglutaminase antibodies (anti-tTG) was initially reported to have a higher sensitivity (99%) and specificity (90%).

• #20 Diagnosis and monitoring of celiac disease: changing utility of serology and histologic measures – American Gastroenterological AssociationAGA Logo_Horizontal

  https://gastro.org/clinical-guidance/diagnosis-and-monitoring-of-celiac-disease-changing-utility-of-serology-and-histologic-measures/

  7. Reduction or avoidance of gluten before diagnostic testing is discouraged, as it may reduce the sensitivity of both serology and biopsy testing. […] 8. When patients have already started on a gluten-free diet before diagnosis, we suggest that the patient go back on a normal diet with three slices of wheat bread daily preferably for 1 to 3 months before repeat determination of TG2-IgA. […] 9. Determination of HLA-DQ2/DQ8 has a limited role in the diagnosis of celiac disease. Its value is largely related to its negative predictive value to rule out celiac disease in patients who are seronegative in the face of histologic changes, in patients who did not have serologic confirmation at the time of diagnosis, and in those patients with a historic diagnosis of celiac disease; especially as very young children before the introduction of celiac-specific serology.

• #21 Celiac Disease (Sprue) Workup: Approach Considerations, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/171805-workup

  The American College of Gastroenterology (ACG) recommends that antibody testing, especially TTG IgA, is the best first test for suspected celiac disease, although biopsies are needed for confirmation; in children younger than 2 years, the IgA TTG test should be combined with testing for IgG-deamidated gliadin peptides. […] A 2024 meta-analysis showed that in selected adult patients with celiac disease, a nonbiopsy approach using TTG antibody levels of at least 10-fold the normal level has moderate to high pretest probability in making the diagnosis (100% specificity, 51% sensitivity, and 83% area under the curve). […] Genetic testing with confirmatory serology may streamline the diagnosis of celiac disease. The authors developed a series of diagnostic algorithms to compare costs and resource utilization. In the most cost-effective one, biopsies are reserved for patients with positive results on composite TG-2/DGP IgA/DGP IgG screening who are confirmed to be genetically susceptible to celiac disease and show abnormalities on confirmatory TG-2 IgA, DGP IgG, or DGP IgA testing.

• #22 Celiac disease – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/celiac-disease/diagnosis-treatment/drc-20352225

  During an upper endoscopy, a healthcare professional inserts a thin, flexible tube equipped with a light and camera down the throat and into the esophagus. The tiny camera provides a view of the esophagus, stomach and the beginning of the small intestine, called the duodenum. […] Many people with celiac disease don’t know they have it. Two blood tests can help diagnose it: Serology testing looks for antibodies in your blood. Elevated levels of certain antibody proteins indicate an immune reaction to gluten. Genetic testing for human leukocyte antigens (HLA-DQ2 and HLA-DQ8) can be used to rule out celiac disease. […] It’s important to be tested for celiac disease before trying a gluten-free diet. Eliminating gluten from your diet might make the results of blood tests appear in the standard range.

• #23 Celiac disease – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/celiac-disease/symptoms-causes/syc-20352220

  Celiac disease is an illness caused by an immune reaction to eating gluten. Gluten is a protein found in foods containing wheat, barley or rye. […] Consult your health care team before trying a gluten-free diet. If you stop or even reduce the amount of gluten you eat before you’re tested for celiac disease, you can change the test results. […] If you still have symptoms after following a gluten-free diet for 6 months to 1 year, you should talk to your health care team to see if you need further testing to look for explanations for your symptoms.

• #24 Coeliac disease | NHS inform

  https://www.nhsinform.scot/illnesses-and-conditions/stomach-liver-and-gastrointestinal-tract/coeliac-disease/coeliac-disease/

  Before a blood test is taken, it’s important that you eat gluten-containing foods in more than one meal every day for at least 6 weeks before the test. […] A blood test for coeliac disease involves taking a blood sample and testing it for antibodies in the blood. […] Blood tests are 95% accurate at diagnosing coeliac disease. […] If the coeliac antibodies are found in your blood, further investigation will be needed. This’ll be discussed with you. […] A biopsy can help confirm a diagnosis of coeliac disease. […] If you’re referred for a biopsy, this will be carried out in hospital. […] A biopsy will only show coeliac disease if the person being tested has been eating gluten-containing foods regularly. […] The only treatment for confirmed coeliac disease is a lifelong gluten-free diet. […] Following a gluten-free diet helps prevent gluten damaging the lining of the intestines (gut). This will improve or remove the symptoms. […] Symptoms should improve within weeks of starting a gluten-free diet. However, it may take up to 2 years for the digestive system to heal completely.

• #25 Diagnosis and management of adult coeliac disease: guidelines from the British Society of Gastroenterology | Gut

  https://gut.bmj.com/content/63/8/1210

  A multidisciplinary panel of 18 physicians and 3 non-physicians from eight countries (Sweden, UK, Argentina, Australia, Italy, Finland, Norway and the USA) reviewed the literature on diagnosis and management of adult coeliac disease (CD). This paper presents the recommendations of the British Society of Gastroenterology. […] Diagnosis of CD requires duodenal biopsy when the patient is on a gluten-containing diet and for the vast majority of adult patients also positive serology. (Grade B) […] Biopsy remains essential for the diagnosis of adult CD and cannot be replaced by serology. Follow-up should aim at strict adherence to a gluten-free diet. (Grade B) […] Diagnosis of CD is by serology and duodenal biopsy, ideally with the patient on a normal, that is, gluten-containing diet. Biopsy remains essential for the diagnosis of adult CD and cannot be replaced by serology. Exceptions are patients with coagulation disorders and pregnant women, in whom biopsy may not be feasible or should be postponed until postpartum.

• #26 Diagnosis and management of adult coeliac disease: guidelines from the British Society of Gastroenterology | Gut

  https://gut.bmj.com/content/63/8/1210

  To state definite diagnosis of CD, villous atrophy is required. However, lesser degrees of damage (25 IELs but no villous atrophy) combined with positive serology (IgA-EMA, tissue transglutaminase (TTG) or IgG-DGP) may also represent CD (probable CD), and in these circumstances a trial with GFD may be considered to further support the diagnosis of CD. […] The diagnosis of CD is readily established in those who, while consuming a gluten-containing diet, have positive serology and a duodenal biopsy with obvious coeliac histology (increased intraepithelial lymphocytosis, crypt hyperplasia and villous atrophy; table 1). These patients can immediately initiate a GFD with confidence. […] In individuals undergoing an upper endoscopy in whom laboratory tests or symptoms or endoscopic features suggest CD, duodenal biopsy should be considered. (Grade C)

• #27 Celiac disease – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/celiac-disease/diagnosis-treatment/drc-20352225

  If the results of these tests indicate celiac disease, one of the following tests will likely be ordered: Endoscopy. This test uses a long tube with a tiny camera that’s put into your mouth and passed down your throat. The camera enables the practitioner to view your small intestine and take a small tissue sample, called a biopsy, to analyze for damage to the villi. Capsule endoscopy. This test uses a tiny wireless camera to take pictures of your entire small intestine. The camera sits inside a vitamin-sized capsule, which you swallow. As the capsule travels through your digestive tract, the camera takes thousands of pictures that are transmitted to a recorder. This test is used in some situations where an exam of the entire or end of the small intestine is desired. […] If you’re diagnosed with celiac disease, additional testing may be recommended to check your nutritional status. This includes levels of vitamins A, B-12, D and E, as well as mineral levels, hemoglobin and liver enzymes. Your bone health also may be checked with a bone density scan.

• #28 Diagnosis of Celiac Disease | Celiac Disease FoundationBack to HomeBack to HomeAbout the DiseaseGluten-Free ResourcesResearch ResourcesAdvocacy and Public PolicyJoin the EffortSupport the FoundationShare on FacebookShare on TwitterEmail this pageprinter-m

  https://celiac.org/about-celiac-disease/screening-and-diagnosis/diagnosis/

  The only way to confirm a celiac disease diagnosis is to have an intestinal biopsy. A pathologist will assign a Modified Marsh Type to the biopsy findings. A Type of 3 indicates symptomatic celiac disease. However, Types 1 and 2 may also indicate celiac disease. […] An intestinal (duodenal) biopsy is considered the “gold standard” for diagnosis because it will tell you (1) if you have celiac disease, (2) if your symptoms improve on a gluten-free diet due to a placebo effect (you feel better because you think you should) or (3) if you have a different gastrointestinal disorder or sensitivity which responds to change in your diet. […] If the results of the antibody or genetic screening tests are positive, your doctor may suggest an endoscopic biopsy of your small intestine. An endoscopy is a procedure that allows your physician to see what is going on inside your GI tract. A scope is inserted through the mouth and down the esophagus, stomach and small intestine, giving the physician a clear view and the option of taking a sample of the tissue.

• #29 Diagnosis of Celiac Disease | Celiac Disease FoundationBack to HomeBack to HomeAbout the DiseaseGluten-Free ResourcesResearch ResourcesAdvocacy and Public PolicyJoin the EffortSupport the FoundationShare on FacebookShare on TwitterEmail this pageprinter-m

  https://celiac.org/about-celiac-disease/screening-and-diagnosis/diagnosis/

  This is usually an outpatient procedure. Samples of the lining of the small intestine will be studied under a microscope to look for damage and inflammation due to celiac disease. It is recommended that the doctor take at least 4-6 duodenal samples from the second part of duodenum and the duodenal bulb, in order to obtain an accurate diagnosis. […] The endoscopy itself may show scalloping and/or flattening of duodenal folds, fissuring over the folds, and a mosaic pattern of mucosa of folds. […] A skin biopsy is sufficient for diagnosis of both DH and celiac disease. This biopsy involves collecting a small piece of skin near the rash and testing it for the IgA antibody. It is not necessary to perform an endoscopic biopsy to establish the diagnosis of celiac disease in a patient with DH; the skin biopsy is definitive.

• #30 Celiac Disease (Sprue) Workup: Approach Considerations, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/171805-workup

  The ESsCD recommends the following for endoscopy and histopathology in cases of suspected celiac disease (CD): When CD is suspected, obtain biopsies even with a normal endoscopic appearance of the duodenum. Duodenal biopsy is an essential component of the diagnostic evaluation for adults with suspected CD and is recommended to confirm the diagnosis. Multiple duodenal biopsies (at least four of the second part of duodenum) are recommended for confirmation. If CD is highly suspected, perform duodenal biopsy even if the serology is negative.

• #31 Coeliac disease – Wikipedia

  https://en.wikipedia.org/wiki/Coeliac_disease

  A negative serology test may still be followed by a recommendation for endoscopy and duodenal biopsy if clinical suspicion remains high. […] An upper endoscopy with biopsy of the duodenum (beyond the duodenal bulb) or jejunum is performed to obtain multiple samples (four to eight) from the duodenum. […] Most people with coeliac disease have a small intestine that appears to be normal on endoscopy before the biopsies are examined. […] However, five findings have been associated with high specificity for coeliac disease: scalloping of the small bowel folds, paucity in the folds, a mosaic pattern to the mucosa (described as a „cracked-mud” appearance), prominence of the submucosa blood vessels, and a nodular pattern to the mucosa. […] European guidelines suggest that in children and adolescents with symptoms compatible with coeliac disease, the diagnosis can be made without the need for intestinal biopsy if anti-tTG antibodies titres are very high (10 times the upper limit of normal). […] The changes classically improve or reverse after gluten is removed from the diet. However, most guidelines do not recommend a repeat biopsy unless there is no improvement in the symptoms on diet.

• #32 Coeliac disease blood tests and biopsy – Coeliac UK

  https://www.coeliac.org.uk/information-and-support/coeliac-disease/getting-diagnosed/blood-tests-and-biospy/

  Biopsies are collected and examined under a microscope to check for damage to the gut lining, which is typical of coeliac disease. […] In some cases, an endoscopy might not be needed to diagnose coeliac disease. Guidelines published in June 2020 in response to the Covid-19 pandemic recommend that some adults can be diagnosed without the need for a biopsy if they: are 55 years or younger, don’t need an endoscopy to rule out another condition, have symptoms of coeliac disease, have very high antibody levels (if IgA tTG is at least 10 times the upper limit of normal), and have a second positive antibody blood test (EMA or IgA tTG if EMA is not available). […] In people with coeliac disease there is damage to the lining of the intestine. Your healthcare professional will classify the damage according to a scale called the Marsh classification: Marsh 0: the lining of the intestine is normal and its unlikely that the person has coeliac disease. Marsh 1: increased number of lymphocytes (small white blood cells that are involved in the bodys immune system response to the disease) is seen, but there are normal villi. Marsh 2: increased number of lymphocytes, the depressions in the lining of the intestine are deeper than normal but normal villi length. Marsh 3: the villi are becoming flattened. Marsh 4: the villi are completely flattened.

• #33 Diagnosis of celiac disease in children – UpToDate

  https://www.uptodate.com/contents/diagnosis-of-celiac-disease-in-children

  The biopsy should be performed with the patient on a gluten-containing diet. Multiple biopsies should be taken because the disease may have a patchy distribution or initially be confined to the duodenal bulb. […] A diagnosis of celiac disease is made if the results of celiac-specific antibody testing and the intestinal biopsy are both abnormal. […] European society guidelines offer the option of an alternate approach to diagnosis for selected patients with very high results of serologic tests and a positive anti-endomysial antibody (EMA) obtained on a separate serum sample. […] A gluten-free diet should not be started prior to a full evaluation for celiac disease. […] Serologic testing is performed by measuring one of several antibodies that are specific for celiac disease, with the patient on a gluten-containing diet.

• #34 Getting diagnosed – How to start your journey to a healthier life – Coeliac UK

  https://www.coeliac.org.uk/information-and-support/coeliac-disease/getting-diagnosed/

  If the blood test is positive or there is clinical suspicion of coeliac disease your GP will then refer you to a gut specialist (a gastroenterologist). […] However, new guidelines published as a result of the Covid-19 pandemic recommend that for some adults who have very high antibody levels, a further blood test can confirm the diagnosis without the need for a biopsy. […] If you test positive for coeliac disease, we have lots of information on how to manage your condition. […] There are home testing kits for coeliac disease available over the counter or online. However, it is important to get medically diagnosed with coeliac disease. […] Eating glutenIf you think you may have coeliac disease, its essential to continue eating gluten until your doctor makes a diagnosis. […] The diagnostic tests for coeliac disease look at how the body responds to gluten.

• #35 Diagnosis of Celiac Disease | Celiac Disease FoundationBack to HomeBack to HomeAbout the DiseaseGluten-Free ResourcesResearch ResourcesAdvocacy and Public PolicyJoin the EffortSupport the FoundationShare on FacebookShare on TwitterEmail this pageprinter-m

  https://celiac.org/about-celiac-disease/screening-and-diagnosis/diagnosis/

  For children with symptoms and signs of malabsorption, a very high tTG-IgA titer (>10 time upper limit of normal), and a positive EMA (antiendomysial) in a second blood sample, some physicians may recommend avoiding endoscopic biopsy, and directly starting a gluten-free diet. Others may recommend genetic testing for additional confirmation. Resolution of symptoms while on a gluten-free diet may be used to confirm the diagnosis.

• #36 Testing and diagnosis of coeliac disease in children – Coeliac Australia

  https://coeliac.org.au/article/testing-and-diagnosis-of-coeliac-disease-in-children/

  The “coeliac gene test” tests for the main genes associated with coeliac disease: HLA-DQ2 and HLA-DQ8. A negative gene test is very helpful as it means coeliac disease is very unlikely; coeliac disease can be excluded and further testing is not necessary. […] If your child is symptomatic but serology results are negative, a review by a paediatric gastroenterologist may still be needed. Coeliac serology does not always accurately exclude coeliac disease i.e. false negative results can occur. […] The European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) recently revised its diagnostic guidelines. The revised 2020 guidelines suggest coeliac disease can be diagnosed in some children in certain circumstances if the following specific strict criteria are met: The tTG antibody level is more than 10 times the upper limit of normal.

• #37 Testing and diagnosis of coeliac disease in children – Coeliac Australia

  https://coeliac.org.au/article/testing-and-diagnosis-of-coeliac-disease-in-children/

  If these criteria are not met, then the “gold-standard” approach based on gastroscopy and small intestinal biopsies is necessary to confirm a diagnosis of coeliac disease. […] The decision to use the above criteria to make a non-biopsy diagnosis of coeliac disease may be appropriate in some situations but should only be made by a paediatric gastroenterologist/specialist. […] If your child with coeliac disease is following a strict gluten free diet, has no troubling symptoms, is growing well, has good nutrient levels and their coeliac antibodies have returned to the normal range, it is very likely they have achieved good healing of their small intestine.

• #38 Navigating coeliac disease diagnosis in primary care | British Journal of General Practice

  https://bjgp.org/content/74/739/52

  Due to progress in serological testing and restricted access to endoscopy services exacerbated by the COVID-19 pandemic, the BSG published interim guidance for adults in 2020 that those aged 55 years with symptoms consistent with CD and no alarm symptoms can be diagnosed without endoscopic biopsy if immunoglobulin A (IgA) tissue transglutimase (tTG) is 10 times the upper limit of normal and a further IgA endomysial antibodies (EMA) test is positive. This interim guidance is stated as specific to the COVID-19 environment pending publication of the new BSG coeliac guideline. Given COVID-19 no longer constitutes a public health emergency and endoscopy services have resumed, there is uncertainty about what pathway GPs should be following and variation in how integrated care boards have interpreted guidance.

• #39 Can Celiac Disease be Diagnosed without Biopsies – GIG® Gluten Intolerance Group®

  https://gluten.org/2024/02/07/can-celiac-disease-be-diagnosed-without-biopsies/

  Researchers are exploring whether clinicians should skip biopsy for diagnosing celiac disease in adults with very high levels of a specific blood marker called tTG-IgA. Current guidelines for children use this blood test, while an intestinal biopsy is the current gold standard for diagnosing adults. […] A recent study reviewed data from over 12,000 patients and found that very high tTG-IgA levels (10 times the normal limit) were highly accurate for diagnosing celiac disease in adults. This suggests that skipping the biopsy in certain cases could be a consideration, especially if there are no worrisome symptoms of cancer. […] In conclusion, the study supports the idea of avoiding biopsy in adults with very high tTG-IgA levels, but there are important considerations and potential limitations to be aware of. Always consult with your healthcare provider for personalized advice. The suggestion to avoid biopsies has not been adopted for the standards in the diagnosis of celiac disease at this time but is promising for the future.

• #40 Diagnosis and management of adult coeliac disease: guidelines from the British Society of Gastroenterology | Gut

  https://gut.bmj.com/content/63/8/1210

  HLA typing should be used to rule out CD. A positive DQ2.5 or DQ8 can never confirm the diagnosis. (Grade B) […] HLA typing should be used in individuals who are self-treated on a GFD and never had appropriate testing for CD before changing their diet. (Grade B) […] HLA typing can be used to rule out CD, and minimise future testing, in high-risk individuals with CD, for example, first-degree relatives. (Grade B) […] The diagnosis of CD requires duodenal biopsy when the patient is on a gluten-containing diet and for the vast majority of adult patients also positive serology. (Grade B) […] Duodenal biopsy should be retained as the mainstay for the diagnosis of adult CD and cannot be replaced by serology. (Grade B) […] In serologically negative patients showing signs of malabsorption (such as anaemia or diarrhoea) or a family history of CD, a duodenal biopsy should be considered. (Grade C)

• #41 Interpreting tests for coeliac disease: Tips, pitfalls and updates

  https://www1.racgp.org.au/ajgp/2018/january-february/interpreting-tests-for-coeliac-disease-1

  Testing at-risk individuals is strongly recommended to detect cases before substantial morbidity develops. […] Positive coeliac disease serology in isolation is insufficient for the diagnosis of coeliac disease. […] Histological evaluation of biopsies from the small intestine is the cornerstone of coeliac disease diagnosis. […] The strong association between coeliac disease and specific human leukocyte antigen (HLA) genes makes HLA genotyping a useful tool in specific situations. […] The main benefit of HLA typing is its ability to exclude coeliac disease diagnosis when the susceptibility genotypes are absent (likelihood of coeliac disease 1%). […] Screening patients with a family history of coeliac disease is important and strongly indicated when there are suggestive symptoms or signs.

• #42 Celiac Disease: Diagnosis and Management | AAFP

  https://www.aafp.org/pubs/afp/issues/2014/0115/p99.html

  More than 99% of patients with celiac disease have human leukocyte antigen DQ2, DQ8, or both. Celiac disease is unlikely if neither of these haplotypes are present, with a negative predictive value approaching 100%. Genetic testing is used rarely, but occasionally may be useful in excluding disease when other testing results are unclear.

• #43 Diagnosis and monitoring of celiac disease: changing utility of serology and histologic measures – American Gastroenterological AssociationAGA Logo_Horizontal

  https://gastro.org/clinical-guidance/diagnosis-and-monitoring-of-celiac-disease-changing-utility-of-serology-and-histologic-measures/

• #44 Diagnostic Guidelines for Celiac Disease – Insights

  https://news.mayocliniclabs.com/2023/04/03/diagnostic-guidelines-for-celiac-disease/

  The guidelines highlight that while this may result in a slight improvement in diagnostic sensitivity, the reduced specificity can become very problematic, especially in patients with low pre-test probability for celiac disease. […] There is general agreement across the guidelines that HLA typing should not be used as part of the initial diagnostic evaluation for celiac disease and, in fact, is not needed to establish a diagnosis. […] However, there are some situations where HLA typing might be useful. […] The North American Society for Pediatric Gastroenterology, Hepatology and Nutrition guidelines published in 2005 are the most clear. These guidelines do not allow for a diagnosis of celiac disease without a biopsy and make it a requirement for any patient with a positive TTG-IgA or IgG.

• #45 Navigating coeliac disease diagnosis in primary care | British Journal of General Practice

  https://bjgp.org/content/74/739/52

  Challenges faced in primary care and variation in local diagnostic pathways will undoubtedly impact patients. We need to ensure we are identifying and working up patients with suspected CD to reduce underdiagnosis. On average, coeliac patients suffer symptoms for 13 years before getting diagnosed and starting a GFD. In our recent study, initial investigations for CD were often delayed because the non-specific symptoms had either been normalised by patients or attributed to alternative diagnoses by GPs. Quality of life is substantially lower in undiagnosed patients with CD compared to the general population, but improves on a GFD. Continued gluten exposure leads to accumulating damage of the intestinal lining and insufficient nutritional absorption, increasing the risk of anaemia, osteoporosis, and malignancy.

• #46 Tests & Diagnosis – Coeliac New Zealand

  https://coeliac.org.nz/get-diagnosed/

  It is vital to continue eating gluten (not excluding gluten-containing foods) until the diagnosis of coeliac disease is confirmed (which for most people will be after the scope test). Reducing or excluding gluten prior to doing antibody blood tests, or especially prior to endoscopy and small bowel biopsy, will likely affect the results and delay or obscure the correct diagnosis. While the results of the gene testing will not be affected by being on a gluten-free diet, this testing is not often helpful in making a diagnosis (as detailed above). When someone has already been on a gluten-free diet for some time without a definitive diagnosis a gluten challenge would then be required to establish the diagnosis. A gluten challenge involves the consumption of gluten-containing foods (at a minimum of 4 slices of wheat-based bread or equivalent) daily for 4-8 weeks prior to testing (2 slices daily for children for a month). Following this period of time, blood tests and/or a small bowel biopsy would then be undertaken. A gluten challenge should only be conducted after a discussion with your doctor and planned in a coordinated and consistent fashion to ensure optimal outcomes.

• #47 Navigating coeliac disease diagnosis in primary care | British Journal of General Practice

  https://bjgp.org/content/74/739/52

  GPs need to be aware of the potential harms of suggesting a GFD to patients before they are diagnosed and should inform patients about the risks of trialling a GFD before diagnostic tests are completed for example, symptoms in response to gluten might become more severe once on a GFD. There is a need for clear guidance for GPs on what to advise patients about their diet during CD testing, including harms of starting a GFD versus harms of continuing to eat gluten. Such guidance will facilitate personalised conversations and joint decision making. Future guidance should also clearly define which patients are eligible for a no-biopsy diagnosis. This needs to be adopted nationwide, and local protocols need to reflect this.

• #48 Celiac Disease Tests – NIDDK

  https://www.niddk.nih.gov/health-information/professionals/clinical-tools-patient-management/digestive-diseases/celiac-disease-health-care-professionals

  If a patients serologic test results are negative and a health care professional still suspects celiac disease, a health care professional may order intestinal biopsies to check for celiac disease or what could be another cause for a patients symptoms. About 2% to 3% of patients with celiac disease have negative serologic test results. […] Genetic testing for HLA-DQ2.5 and HLA-DQ8 may help rule out celiac disease in certain circumstances. For example, health care professionals may order genetic tests in patients for whom other tests do not provide a clear diagnostic result. If a patients genetic test results are negative for HLA-DQ2.5 and HLA-DQ8, he or she is very unlikely to have, or to develop, celiac disease.

• #49 Coeliac disease – Wikipedia

  https://en.wikipedia.org/wiki/Coeliac_disease

  However, it is now thought to have similar characteristics to anti-endomysial antibodies. […] Both anti-transglutaminase and anti-endomysial antibodies have high sensitivity to diagnose people with classic symptoms and complete villous atrophy, but they are only found in 30-89% of the cases with partial villous atrophy and in less than 50% of the people who have minor mucosal lesions (duodenal lymphocytosis) with normal villi. […] Guidelines recommend that a total serum IgA level is checked in parallel, as people with coeliac with IgA deficiency may be unable to produce the antibodies on which these tests depend („false negative”). […] If all these antibodies are negative, then anti-DGP antibodies (antibodies against deamidated gliadin peptides) should be determined. […] Because of the major implications of a diagnosis of coeliac disease, professional guidelines recommend that a positive blood test is still followed by an endoscopy/gastroscopy and biopsy.

• #50 Celiac Disease Diagnostics

  https://www.diagnostic.grifols.com/en/-/learning/celiac-disease-diagnostics

  Celiac disease is frequently associated with other autoimmune diseases and can take several years before it is properly diagnosed. […] The diagnosis of celiac disease relies on a combination of symptom recognition, serology, and analysis of tissue samples from the small intestine, both performed while the individual is still eating a diet containing gluten. […] Celiac disease is one of the best understood immune-related diseases and a combination of serological testing and duodenal biopsy sampling is required for the diagnosis of the disease in adults. […] A positive antibody test suggests that a person might have celiac disease, but it is not a conclusive test; an intestinal biopsy will be needed to confirm diagnosis. […] After a positive serologic result has been found, the diagnosis of celiac disease is confirmed by examination of tissue samples (biopsies) from the small intestine; these samples are obtained using an endoscope which is passed through the mouth and stomach to the first part of the intestine – the duodenum.

• #51 Diagnosis of celiac disease in children – UpToDate

  https://www.uptodate.com/contents/diagnosis-of-celiac-disease-in-children

  Diagnosis of celiac disease in children […] The diagnosis of celiac disease in children is discussed here. […] Testing for celiac disease is recommended for patients with suggestive symptoms and also for children in groups at increased risk for having the disease, regardless of symptoms, provided that they are on a gluten-containing diet. […] We suggest testing patients with any symptoms and signs suggestive of celiac disease. These may include classical gastrointestinal symptoms, nonspecific behavioral symptoms, and/or extraintestinal manifestations. […] By contrast, screening is not recommended for asymptomatic patients who are not members of a high-risk group, according to the United States Preventive Services Task Force. […] We suggest screening all members of the following high-risk groups, regardless of symptoms.

• #52 Celiac Disease in Children: Getting Tested | BeyondCeliac.org

  https://www.beyondceliac.org/celiac-disease/children/testing/

  If you suspect your child has celiac disease, it is best to get a confirmed diagnosis. The diagnosis of celiac disease in children often starts with blood testing and is typically followed by an intestinal biopsy. This is a safe, non-surgical procedure. […] Contact your child’s pediatrician and request a celiac disease blood test. Bring your completed Celiac Symptoms Checklist along to help discuss your child’s signs and risks. […] The pediatrician will order one or more of a series of blood tests to measure your child’s response to gluten. […] Currently, recommended tests include: Total IgA, IgA-tTG, IgA-EMA. […] It is critically important to continue feeding your child a normal, gluten-containing diet before getting tested for celiac. Eliminating gluten before the blood test could alter the results and lead to an incorrect diagnosis.

• #53 Celiac Disease (Sprue) Workup: Approach Considerations, Laboratory Studies, Imaging Studies

  https://emedicine.medscape.com/article/171805-workup

  A review that compared seven guidelines for celiac disease (celiac sprue) in reputable organizations of various geographic areas found that the main points of dispute among them include the nonbiopsy approach, genetic human leukocyte antigen testing, and follow-up protocols. The diagnosis of celiac disease (celiac sprue) is confirmed via histopathologic evaluation of duodenal biopsy specimens. Corroboration comprises evidence of small intestinal villous atrophy in the presence of celiac autoantibodies and/or an unequivocal response to a gluten-free diet. Controversy exists regarding making the diagnosis without biopsy in specific cases, particularly in the pediatric population. […] In 2013, the American College of Gastroenterology (ACG) issued clinical guidelines regarding the diagnosis and treatment of celiac disease, including the following: Patients should be tested prior to being placed on a gluten-free diet. Antibody testing, especially immunoglobulin A anti-tissue transglutaminase antibody (IgA TTG), is the best first test, although biopsies are needed for confirmation; in children younger than 2 years, the IgA TTG test should be combined with testing for IgG-deamidated gliadin peptides. Patients diagnosed with celiac disease should be examined for deficiencies, including low bone density (BMD). Patients already on a gluten-free diet without prior testing need to be evaluated to assess the likelihood that celiac disease is present; genetic testing and a gluten challenge are most helpful. Patients in whom celiac disease is highly likely despite absence of prior testing should be treated as though they have the disease. Although most patients get better on a gluten-free diet, a systematic evaluation is needed for those who do not.

• #54 Diagnosis of celiac disease in children – UpToDate

  https://www.uptodate.com/contents/diagnosis-of-celiac-disease-in-children

  If screening is undertaken for asymptomatic individuals in these high-risk groups, testing should first be performed at three years of age or older and on a gluten-containing diet for at least one year. […] The first step is to perform serologic testing. The serology results and level of clinical suspicion determine whether to move on to endoscopic biopsy. […] Testing should ideally be performed while on a gluten-containing diet because a gluten-free diet increases the risk of false-negative results. […] For most patients, the most valuable test is for IgA antibodies against tissue transglutaminase (tTG-IgA). […] Individuals with positive IgA antibodies against tissue transglutaminase (tTG-IgA) or anti-endomysial antibodies (EMA) should undergo an intestinal biopsy to establish the diagnosis of celiac disease.

• #55 Diagnosis of celiac disease in children – UpToDate

  https://www.uptodate.com/contents/diagnosis-of-celiac-disease-in-children

  Intestinal biopsy is valuable for all patients to achieve maximal diagnostic certainty and exclude other gastrointestinal diseases. […] Patients with dermatitis herpetiformis established by skin biopsy are presumed to have celiac disease and can be treated with a gluten-free diet without other diagnostic studies. […] The natural history of potential celiac disease was described in a long-term study from Italy that found that 43 percent of children with positive tTG and EMA antibodies but normal histopathology progressed to villous atrophy and subsequent diagnosis of celiac disease over 12 years. […] For selected patients who meet serologic criteria, we offer the option of forgoing the endoscopy, after a full discussion with the patient and family. […] Diagnosis without an intestinal biopsy is an option for patients with very high tTG-IgA and positive EMA-IgA.

• #56 Guidelines for best practices in monitoring established coeliac disease in adult patients | Nature Reviews Gastroenterology & Hepatology

  https://www.nature.com/articles/s41575-023-00872-2

  Thus, the presence of TG2Ab in the serum and duodenal histological alterations usually make the diagnosis straightforward, and this diagnostic algorithm is supported by guidelines from various scientific societies, thereby supporting clinicians in CeD diagnosis. […] Currently, the only treatment for CeD is adherence to a life-long GFD; however, it is still unclear how to monitor patients with established CeD in the most appropriate way. […] Despite the paucity of evidence, it is common to use the same biomarkers as used for diagnosis (TG2Ab serology and duodenal histology) to monitor CeD activity and response to a GFD; furthermore, blood tests to evaluate intestinal function and the presence of common CeD comorbidities are routinely used in monitoring, often on a yearly basis. […] Using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) methodology, we attempted to address these gaps and provide guidance to clinicians regarding a standardized and consensual approach to monitor CeD.

• #57 Diagnosis of celiac disease – Dr. Schär Institute

  https://www.drschaer.com/us/institute/a/diagnosis-celiac-disease

  Diagnosis of celiac disease is based on four elements. It is essential that patients follow a gluten-containing diet both before and during the diagnostic procedure. […] The four key elements of a celiac disease diagnosis are: Clinical history, Serology, Histology, Improvement of symptoms and antibody response to a gluten-free diet. […] Serological testing for celiac disease involves the identification of immunoglobulin A tissue transglutaminase (IgA tTG) antibodies and specific endomysial antibodies (EMA). Total IgA should be measured in order to rule out IgA deficiency and reduce the risk of a false negative result. […] The diagnosis of celiac disease is considered to be confirmed if symptoms improve and repeat serological testing indicates that the antibodies are responding to the gluten-free diet. […] Guidelines from the Primary Care Society for Gastroenterology (PCSG) recommend that newly diagnosed patients should be re-assessed after 3-6 months, and annually thereafter, in order to monitor compliance and response to the diet.

• #58 Celiac Disease: Symptoms & How It’s Treated

  https://my.clevelandclinic.org/health/diseases/14240-celiac-disease

  Most people find their symptoms begin to improve almost immediately after starting a gluten-free diet. It may take several weeks to replace your nutritional deficiencies and several months for your gut to fully heal. […] If you go many years before being diagnosed or you don’t succeed in avoiding gluten afterward, the effects of celiac disease can be more severe and long-lasting. Malnutrition can affect your nervous system and skeletal system and some of these effects are hard to reverse, especially when they occur during childhood development. […] Most people who’ve been diagnosed and have stopped eating gluten have an excellent prognosis. Most of the damage done by celiac disease can be undone.

• #59 Celiac Disease Testing

  https://www.southcarolinablues.com/web/public/brands/medicalpolicy/external-policies/celiac-disease-testing/

  Celiac disease is a hereditary, chronic autoimmune disorder triggered by the ingestion of gluten, a protein found in wheat, rye, and barley. When an individual with celiac disease ingests gluten, the body mounts an immune response that attacks the small intestine. These attacks lead to damage on the villi within the small intestine, inhibiting nutrient absorption (CDF, 2024). […] The Quanta Lite Celiac Screen ELISA test for tissue transglutaminase/gliadin and the Quanta Lite Celiac DGP Screen by Inova Diagnostics, Inc. were approved by the FDA on Jan. 28, 1999 and Dec. 13, 2006, respectively. Quanta Plex Celiac IgA and IgG profiles by Inova Diagnostics Inc. were approved on March 14, 2007 and June 20, 2007. […] For individuals who have been diagnosed with celiac disease and who are IgA sufficient, serologic testing with IgA anti-tissue transglutaminase (TTG) is considered MEDICALLY NECESSARY at the following intervals: At the first follow-up visit 3 6 months after diagnosis. Every 6 months until normalization of anti-TTG levels has occurred. Every 12 24 months thereafter.

• #60 Coeliac Disease (Causes, Symptoms and Treatment)

  https://patient.info/doctor/coeliac-disease-pro

  Refer young people and adults with positive serological test results to a gastrointestinal specialist for endoscopic intestinal biopsy to confirm or exclude CD. […] Treatment with a lifelong strict gluten-free diet (GFD) is currently the only coeliac disease treatment of known effectiveness. […] Explain to people who are thought to be at risk of developing coeliac disease that a delayed diagnosis, or undiagnosed coeliac disease, can result in continuing ill health and serious long-term complications. […] Consider referring people with CD for endoscopic intestinal biopsy if continued exposure to gluten has been excluded and: Serological titres are persistently high and show little or no change after 12 months; or They have persistent symptoms, including diarrhoea, abdominal pain, weight loss, fatigue or unexplained anaemia.

• #61

  https://journals.lww.com/ajg/fulltext/2023/01000/american_college_of_gastroenterology_guidelines.17.aspx

  The guideline evaluates a broad spectrum of clinical practice, including indication for CD testing; diagnostic strategies for individuals on a gluten-containing diet or following a gluten-free diet (GFD); role of biopsy for confirmation of the diagnosis; indication for gluten challenge and genetic testing; general approach to management; preventive care such as vaccination; monitoring of GFD adherence including discussion of gluten detection devices, probiotics, goals of therapy, and outcomes; and the differential diagnosis for nonresponsive CD. […] Intestinal biopsy has been a central test to confirm the diagnosis of CD since the late 1950s. Traditionally, the diagnosis of CD required 3 intestinal biopsies: a biopsy on a gluten-containing diet (diagnosis), a biopsy after a period on GFD (to demonstrate improvement), and a biopsy after a gluten challenge (to demonstrate worsening). Later studies demonstrated that a biopsy at the time of diagnosis in children without additional intestinal biopsies was able to correctly diagnose 95% of cases. Thus, intestinal biopsy for confirmation of the diagnosis became standard of care. More recently, in view of the excellent specificity of TTG antibodies at high titters, a nonbiopsy diagnosis for selected children with suspicion of CD has been proposed.

• #62 Diagnosis of Celiac Disease – NIDDK

  https://www.niddk.nih.gov/health-information/digestive-diseases/celiac-disease/diagnosis

  Doctors typically diagnose celiac disease with blood tests and biopsies of the small intestine. […] Doctors most often use blood tests and biopsies of the small intestine to diagnose or rule out celiac disease. […] Blood tests can show levels of certain antibodies that are often higher than normal in people who have untreated celiac disease. […] A doctor obtains biopsies of the small intestine during an upper GI endoscopy. […] A pathologist will examine the tissue under a microscope to look for signs of celiac disease. […] In some cases, a health care professional may take a blood sample or use a swab to collect cells from the inside of your cheek. […] If you do not have these gene variants, you are very unlikely to have celiac disease. […] Doctors in the United States do not routinely screen people for celiac disease.

• #63 Celiac disease: Who should I test, and how? | Cleveland Clinic Journal of Medicine

  https://www.ccjm.org/content/90/6/349

  The genetic permissiveness for CD is human leukocyte antigen (HLA)-DQ2/DQ8. However, genetic testing has no role in the routine initial diagnosis of CD as it has little positive predictive value for CD. HLA-DQ2/DQ8 can be found in about 30% of the general population. The utility of genetic testing is its high negative predictive value: if a patient is negative for HLA-DQ2/DQ8, then CD can be ruled out, with rare exceptions. […] Monitoring for improvement beyond symptom resolution can be accomplished by checking serology at 3 to 6 months, then every 6 months until seroconversion, and then annually. Recent guidelines suggest considering intestinal healing as a goal that can be assessed by follow-up intestinal biopsy after 2 years on a gluten-free diet.

• #64 Coeliac Disease (Causes, Symptoms and Treatment)

  https://patient.info/doctor/coeliac-disease-pro

  For people with CD who have persistent symptoms despite advice to exclude gluten from their diet: Review the certainty of the original diagnosis. […] Delayed diagnosis of CD may result in continuing ill health, osteoporosis, miscarriage and a modest, increased risk of intestinal malignancy (in adults); also, growth failure, delayed puberty and dental problems (in children).

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