Choroba trzewna
Diagnostyka i diagnoza

Choroba trzewna (celiakia) to przewlekła autoimmunologiczna enteropatia, charakteryzująca się zapaleniem błony śluzowej jelita cienkiego, zanikiem kosmków i hiperplazją krypt, indukowaną przez gluten. Diagnostyka u dorosłych opiera się na połączeniu badań serologicznych i biopsji dwunastnicy. Kluczowe testy serologiczne to przeciwciała przeciwko transglutaminazie tkankowej IgA (tTG-IgA) z czułością około 93%, przeciwciała przeciw endomyzjum IgA (EMA-IgA) o swoistości bliskiej 100%, oraz testy IgG (DGP-IgG, tTG-IgG) u pacjentów z niedoborem IgA. Zaleca się wykonywanie badań serologicznych u pacjentów na diecie zawierającej gluten, gdyż eliminacja glutenu przed badaniem obniża czułość testów. Biopsja jelita cienkiego, pobierająca 4-6 próbek z dwunastnicy podczas EGD, pozostaje złotym standardem potwierdzającym diagnozę, ocenianą według zmodyfikowanej klasyfikacji Marsha. Testy genetyczne HLA-DQ2 i HLA-DQ8 są pomocne w wykluczeniu choroby, zwłaszcza u pacjentów na diecie bezglutenowej lub z niejednoznacznymi wynikami.

Choroba trzewna (Celiac Disease) – Diagnostyka

Choroba trzewna (celiakia) jest przewlekłą autoimmunologiczną chorobą charakteryzującą się stanem zapalnym błony śluzowej jelita cienkiego, zanikiem kosmków jelitowych i hiperplazją krypt, które występują w wyniku ekspozycji na gluten i wykazują poprawę po eliminacji glutenu z diety. Diagnoza choroby trzewnej ma również istotne znaczenie dla członków rodziny, którzy mogą być narażeni na chorobę trzewną i zaburzenia z nią związane.12

Choroba trzewna jest jednym z najlepiej poznanych schorzeń o podłożu immunologicznym, a do jej diagnozy u dorosłych wymagane jest połączenie badań serologicznych i biopsji dwunastnicy. Choroba trzewna może być trudna do zdiagnozowania, ponieważ jej objawy są bardzo powszechne i przypominają objawy wielu innych schorzeń układu pokarmowego.12

Badania serologiczne (z krwi)

Badania serologiczne są kluczowym elementem wykrywania i diagnozowania choroby trzewnej. Osoby z chorobą trzewną, które spożywają gluten, mają wyższy niż normalny poziom określonych przeciwciał we krwi. Przeciwciała te są wytwarzane przez układ odpornościowy, ponieważ traktuje gluten (białka zawarte w pszenicy, życie i jęczmieniu) jako zagrożenie.12

Najczęściej stosowanymi testami serologicznymi w diagnostyce choroby trzewnej są:

  • Przeciwciała przeciwko transglutaminazie tkankowej w klasie IgA (tTG-IgA) – jest to zalecany test pierwszego wyboru do wykrywania choroby trzewnej w każdym wieku. Test tTG-IgA będzie pozytywny u około 93% pacjentów z chorobą trzewną, którzy są na diecie zawierającej gluten.12
  • Całkowite stężenie IgA – należy mierzyć jednocześnie z badaniami serologicznymi, aby określić, czy poziom IgA jest wystarczający do uzyskania wiarygodnych wyników testów.12
  • Przeciwciała przeciwko endomyzjum w klasie IgA (EMA-IgA) – test EMA ma swoistość prawie 100%, co czyni go najbardziej specyficznym testem dla choroby trzewnej, chociaż nie jest tak czuły jak test tTG-IgA.12
  • Przeciwciała przeciwko deamidowanym peptydom gliadyny w klasie IgG (DGP-IgG) i tTG-IgG – wykonuje się je u pacjentów z selektywnym niedoborem IgA.12

Ważne jest, aby badania serologiczne były wykonywane u pacjentów, którzy są na diecie zawierającej gluten. Unikanie glutenu przed badaniami diagnostycznymi nie jest zalecane, ponieważ może obniżyć czułość zarówno badań serologicznych, jak i biopsji. Jeśli pacjent już rozpoczął dietę bezglutenową przed diagnozą, sugeruje się, aby pacjent wrócił na normalną dietę z trzema kromkami chleba pszennego dziennie, najlepiej na 1-3 miesiące przed ponownym oznaczeniem tTG-IgA.12

Biopsja jelita cienkiego

Biopsja jelita cienkiego jest uważana za „złoty standard” diagnozowania choroby trzewnej. Jeśli testy serologiczne sugerują możliwość choroby trzewnej, zaleca się wykonanie biopsji dwunastnicy w celu potwierdzenia diagnozy.12

Biopsja jest wykonywana podczas endoskopia-gornego-odcinka-przewodu-pokarmowego/” title=”endoskopia górnego odcinka przewodu pokarmowego” class=”to-tag” data-termid=”28032″>endoskopii górnego odcinka przewodu pokarmowego (EGD). W trakcie tej procedury lekarz wprowadza cienką, elastyczną rurkę (endoskop) przez usta do przełyku, żołądka i jelita cienkiego. Endoskop jest wyposażony w narzędzie, które umożliwia pobranie małych próbek tkanki z dwunastnicy.12

Zaleca się, aby lekarz pobrał co najmniej 4-6 próbek z dwunastnicy, w tym z opuszki dwunastnicy i dystalnej części dwunastnicy, w celu uzyskania dokładnej diagnozy. Endoskopia sama w sobie może pokazać ząbkowanie i/lub spłaszczenie fałdów dwunastnicy, pęknięcia nad fałdami i mozaikowy wzór błony śluzowej fałdów.12

Próbki tkanki są badane pod mikroskopem w celu oceny uszkodzenia i stanu zapalnego jelita cienkiego spowodowanego chorobą trzewną. Patolog przypisze typ według zmodyfikowanej klasyfikacji Marsha do wyników biopsji. Typ 3 wskazuje na objawową chorobę trzewną, jednak typy 1 i 2 również mogą wskazywać na chorobę trzewną.12

Testy genetyczne

Testy genetyczne na obecność HLA-DQ2 i HLA-DQ8 mogą być przydatne w wykluczeniu choroby trzewnej w określonych okolicznościach. Na przykład, lekarze mogą zalecić testy genetyczne u pacjentów, u których inne badania nie dają jednoznacznego wyniku diagnostycznego.1

Choroba trzewna jest silnie związana z obecnością genów HLA-DQ2 i HLA-DQ8. Ponad 95% pacjentów z chorobą trzewną ma haplotyp HLA-DQ2 lub HLA-DQ8, chociaż haplotypy te nie są szczególnie specyficzne dla choroby trzewnej. Jeśli wyniki testu genetycznego pacjenta są negatywne dla HLA-DQ2 i HLA-DQ8, jest bardzo mało prawdopodobne, aby miał lub rozwinął chorobę trzewną.12

Główną zaletą typowania HLA jest jego zdolność do wykluczenia diagnozy choroby trzewnej, gdy brak jest genotypów podatności. Badania genetyczne mogą być wykonane za pomocą badania krwi, testu śliny lub wymazu z policzka.12

Diagnostyka u osób już na diecie bezglutenowej

U pacjentów, którzy już rozpoczęli dietę bezglutenową przed diagnozą, badania serologiczne mogą nie być wiarygodne. W takich przypadkach diagnostyka jest bardziej złożona.1

Typowanie HLA-DQ2/DQ8 może być pomocne w wykluczeniu choroby trzewnej u pacjentów, którzy są już na diecie bezglutenowej. Jeśli pacjent jest negatywny dla HLA-DQ2 i HLA-DQ8, można praktycznie wykluczyć chorobę trzewną.1

W przypadku pozytywnego wyniku testu genetycznego może być konieczne przeprowadzenie próby z glutenem. Próba z glutenem powinna być nadzorowana przez lekarza specjalizującego się w chorobie trzewnej, który może natychmiast skierować pacjenta na biopsję, jeśli objawy są poważne.1

Szczególne przypadki diagnostyczne

Diagnostyka u dzieci

Kryteria diagnostyczne dla choroby trzewnej różnią się u osób dorosłych i dzieci. W przypadku dzieci z objawami i oznakami nieprawidłowego wchłaniania, bardzo wysokim mianem tTG-IgA (>10-krotność górnej granicy normy) i pozytywnym wynikiem EMA w drugiej próbce krwi, niektórzy lekarze mogą zalecić unikanie biopsji endoskopowej i bezpośrednie rozpoczęcie diety bezglutenowej. Inni mogą zalecić badania genetyczne dla dodatkowego potwierdzenia. Ustąpienie objawów podczas stosowania diety bezglutenowej może służyć potwierdzeniu diagnozy.12

Europejskie wytyczne oferują opcję alternatywnego podejścia do diagnozy dla wybranych pacjentów z bardzo wysokimi wynikami testów serologicznych (IgA przeciwko tkankowej transglutaminazie [tTG-IgA] >10 razy powyżej górnej granicy normy [ULN]) i pozytywnym przeciwciałem przeciw endomyzjum (EMA) uzyskanym z oddzielnej próbki surowicy.1

Diagnostyka zapalenia opryszczkowatego skóry (Dermatitis herpetiformis)

W przypadku zapalenia opryszczkowatego skóry (DH), które jest skórną manifestacją choroby trzewnej, biopsja skóry jest wystarczająca do diagnozy zarówno DH, jak i choroby trzewnej. Ta biopsja obejmuje pobranie małego fragmentu skóry w pobliżu wysypki i zbadanie go pod kątem obecności przeciwciał IgA. W przypadku pacjenta z DH nie jest konieczne wykonanie biopsji endoskopowej w celu ustalenia diagnozy choroby trzewnej; biopsja skóry jest rozstrzygająca.12

Przypadki wymagające szczególnej uwagi

Jeśli wyniki badań serologicznych pacjenta są negatywne, a lekarz nadal podejrzewa chorobę trzewną, może zlecić biopsje jelitowe w celu sprawdzenia choroby trzewnej lub tego, co mogłoby być inną przyczyną objawów pacjenta.1

U pacjentów z objawami i wysokim podejrzeniem klinicznym choroby trzewnej należy rozważyć wykonanie gastroskopii z biopsją dwunastnicy niezależnie od wyników badań serologicznych, ze względu na niedoskonałą czułość serologii, ryzyko błędu weryfikacji w badaniach oceniających testy na chorobę trzewną, możliwość seronegatywnej choroby trzewnej i diagnostykę różnicową z innymi enteropatiami.1

Chociaż bardzo rzadko, to możliwe jest, że ktoś z chorobą trzewną ma negatywne wyniki testów przeciwciał. Jeśli Twoje testy były negatywne, ale nadal doświadczasz objawów, skonsultuj się z lekarzem i poddaj się dalszej ocenie medycznej.1

Badania uzupełniające

Jeśli zdiagnozowano chorobę trzewną, można zalecić dodatkowe badania, aby sprawdzić stan odżywienia. Obejmują one poziomy witamin A, B-12, D i E, a także poziomy minerałów, hemoglobiny i enzymów wątrobowych. Stan kości może być również sprawdzony za pomocą badania gęstości kości.1

Badania laboratoryjne do uwzględnienia w zarządzaniu chorobą trzewną obejmują: przeciwciała charakterystyczne dla choroby trzewnej (IgA-tTG), profil niedokrwistości odżywczej (hemoglobina, hematokryt, kwas foliowy, ferrytyna, witamina B12), profil witaminowy (tiamina, witamina B6, 25-hydroksywitamina D), profil mineralny (miedź, cynk), profil lipidowy, profil elektrolitowy i nerkowy, pełna morfologia krwi (CBC), hormon stymulujący tarczycę (TSH), a dla dorosłych – badanie gęstości mineralnej kości w ciągu pierwszego roku po diagnozie.1

Monitorowanie choroby trzewnej

Regularne monitorowanie badaniami krwi może pomóc odpowiedzieć na następujące pytania: Czy jelito cienkie się goi? Czy jestem odpowiednio obserwowany i badany pod kątem typowych niedoborów żywieniowych i chorób towarzyszących? Czy mój stan się poprawia? Czy jestem narażony na gluten?1

U pacjentów z potwierdzoną chorobą trzewną, pacjenci powinni być ponownie ocenieni po 3-6 miesiącach, a następnie co roku, w celu monitorowania przestrzegania diety i odpowiedzi na leczenie.1

Monitorowanie poprawy stanu zdrowia wykraczającej poza ustąpienie objawów można przeprowadzić poprzez kontrolę serologii po 3-6 miesiącach, a następnie co 6 miesięcy do momentu serokonwersji, a następnie co roku. Ostatnie wytyczne sugerują rozważenie gojenia jelit jako celu, który można ocenić poprzez kontrolną biopsję jelitową po 2 latach stosowania diety bezglutenowej.1

Ocena skuteczności leczenia

Diagnoza choroby trzewnej jest uważana za potwierdzoną, jeśli objawy ustępują, a powtórne badania serologiczne wskazują, że przeciwciała reagują na dietę bezglutenową.1

Większość osób zauważa poprawę objawów niemal natychmiast po rozpoczęciu diety bezglutenowej. Może minąć kilka tygodni, aby uzupełnić niedobory żywieniowe i kilka miesięcy, aby jelito całkowicie się zagoiło. Jeśli nadal występują objawy, może to wynikać z tego, że nieświadomie spożywa się małe ilości glutenu lub może występować wtórny stan zdrowotny. Tylko 5% osób ma prawdziwą oporną chorobę trzewną, która nie reaguje na dietę.1

Oporna choroba trzewna (RCD) odnosi się do trwających objawów i/lub oznak zaburzeń wchłaniania z zanikiem kosmków jelitowych pomimo dowodów na ścisłe przestrzeganie diety bezglutenowej przez co najmniej 12 miesięcy. Jest to stosunkowo rzadkie poza ośrodkami referencyjnymi, stanowiąc 1% pacjentów z chorobą trzewną.1

Podsumowanie procesu diagnostycznego

Diagnostyka choroby trzewnej (celiakii) obejmuje dwa główne etapy: badania i diagnozę. Zawsze należy konsultować się z lekarzem doświadczonym w chorobie trzewnej, aby zapewnić właściwą diagnozę.1

Pierwszym krokiem w diagnostyce choroby trzewnej jest badanie przesiewowe krwi, które może zlecić każdy lekarz. Jeśli test ten jest pozytywny, następnym krokiem jest potwierdzenie diagnozy za pomocą górnej endoskopii z biopsją.1

Jeśli wyniki testów wskazują na chorobę trzewną, lekarz zaleci ścisłą, dożywotnią dietę bezglutenową i zaleci badania w celu monitorowania problemów zdrowotnych związanych z chorobą trzewną.1

Postawienie diagnozy choroby trzewnej ma kluczowe znaczenie, ponieważ nieleczona choroba trzewna może prowadzić do długotrwałych skutków zdrowotnych, takich jak inne zaburzenia autoimmunologiczne i niedobory składników odżywczych.1

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  1. 09.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Diagnosis of celiac disease in adults – UpToDate
    https://www.uptodate.com/contents/diagnosis-of-celiac-disease-in-adults
    Diagnosis of celiac disease in adults […] Celiac disease is a small bowel disorder characterized by mucosal inflammation, villous atrophy, and crypt hyperplasia, which occur upon exposure to dietary gluten and demonstrate improvement after withdrawal of gluten from the diet. […] The diagnosis of celiac disease also has important implications for family members who may be at risk for celiac disease and associated disorders. […] 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.
  • #1 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.
  • #1 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. […] 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. […] All celiac disease blood tests require that you be on a gluten-containing diet to be accurate. The tTG-IgA test will be positive in about 93% of patients with celiac disease who are on a gluten-containing diet.
  • #1 Celiac Disease (Sprue) Workup: Approach Considerations, Laboratory Studies, Imaging Studies
    https://emedicine.medscape.com/article/171805-workup
    The ESsCD has the following recommendations for serology: IgA-TG2 (immunoglobulin A-tissue transglutaminase 2) antibody is the preferred single test for CD detection at any age. […] Concurrently measure total IgA level with serology testing to determine whether IgA levels are sufficient. […] At diagnosis and follow-up, perform IgG-based testing (IgG-DGPs [deamidated gliadin peptides] or IgG-TG2) in patients with selective total IgA-deficiency. […] Perform all diagnostic serologic testing while patients are on a gluten-containing diet. […] Antibodies directed against native gliadin (AGA) are not recommended for primary CD detection.
  • #1 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/
    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. […] IgA Endomysial antibody (EMA): The EMA test has a specificity of almost 100%, making it the most specific test for celiac disease, although it is not as sensitive as the tTG-IgA test. […] While it is very rare, it is possible for someone with celiac disease to have negative antibody test results. If your tests were negative, but you continue to experience symptoms, consult your physician and undergo further medical evaluation. […] A gluten challenge should only be supervised by a physician trained in celiac disease, who can move you immediately to a biopsy if your symptoms are severe.
  • #1 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/
  • #1 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.
  • #1 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 might have dermatitis herpetiformis, your health care professional may take a small sample of skin tissue to examine under a microscope. […] 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.
  • #1 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.
  • #1 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. […] 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.
  • #1 Celiac Disease – Gastrointestinal Disorders – Merck Manual Professional Edition
    https://www.merckmanuals.com/professional/gastrointestinal-disorders/malabsorption-syndromes/celiac-disease
    Because biopsy lacks specificity, serologic markers can aid diagnosis. Tissue transglutaminase antibody (tTG)-IgA antibody and endomysial IgA antibody (EMAan antibody against an intestinal connective tissue protein) have sensitivity and specificity 90%. […] If either test is positive, the patient should have a diagnostic small-bowel biopsy. If both are negative, celiac disease is extremely unlikely. […] All diagnostic serologic testing should be performed with patients following a gluten-containing diet. […] Histocompatibility testing can be useful in selected clinical situations. More than 95% of celiac patients have the human leukocyte antigen (HLA)-DQ2 or HLA-DQ8 haplotype, although these haplotypes are not particularly specific for celiac disease. […] Strongly consider celiac disease in patients with iron deficiency but no apparent gastrointestinal bleeding.
  • #1 Interpreting tests for coeliac disease: Tips, pitfalls and updates
    https://www1.racgp.org.au/ajgp/2018/january-february/interpreting-tests-for-coeliac-disease-1
    An active case-finding approach can improve detection of coeliac disease by more than 40-fold, but this only works when doctors are mindful of the disease. […] Currently, serologic testing for coeliac disease consists of the transglutaminase (tTG) and deamidated gliadin peptide (DGP) antibody tests. […] 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.
  • #1 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 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.
  • #1 Diagnosis – Coeliac Australia
    https://coeliac.org.au/learn/diagnosis/
    A negative gene test is very helpful as it means coeliac disease can be excluded (you must have a coeliac gene to be able to get coeliac disease). […] A clear diagnosis can help you stay motivated to stick to your gluten free diet and will also ensure you receive the necessary follow up to manage your coeliac disease.
  • #1 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.
  • #1 Diagnosis of celiac disease in children – UpToDate
    https://www.uptodate.com/contents/diagnosis-of-celiac-disease-in-children
    European society guidelines offer the option of an alternate approach to diagnosis for selected patients with very high results of serologic tests (IgA antibodies against tissue transglutaminase [tTG-IgA] >10 times the upper limit of normal [ULN]) and a positive anti-endomysial antibody (EMA) obtained on a separate serum sample. […] Treatment of individuals with confirmed celiac disease consists of a lifelong gluten-free diet, which improves gastrointestinal symptoms as well as most of the non-gastrointestinal symptoms of celiac disease and may reduce the risk of long-term adverse health consequences.
  • #1
    https://journals.lww.com/ajg/fulltext/2023/01000/american_college_of_gastroenterology_guidelines.17.aspx
    A diagnosis of CD is definitively confirmed by the demonstration of histological changes associated with the disease as classified according to Marsh or more recently the simplified Corazza classification. Small bowel biopsy is also useful for the differential diagnosis of other enteropathies or malabsorptive disorders. […] Multiple biopsies of the duodenum (1 or 2 from bulb and 4 from distal duodenum) are necessary for diagnosis of CD. […] The role of DGP IgG testing in IgA-deficient patients with negative TTG IgG remains uncertain. […] Symptomatic patients whose pretest suspicion for CD is high (5%) should undergo upper gastrointestinal endoscopy with duodenal biopsy irrespective of serologic results, given the imperfect sensitivity of serology, risk of verification bias on studies assessing CD testing, the possibility of seronegative CD, and differential diagnosis with other enteropathies.
  • #1 Follow-Up Testing | BeyondCeliac.org
    https://www.beyondceliac.org/living-with-celiac-disease/followup-testing/
    Celiac disease damages the villi, which are finger-like projections in the small intestine. Villi are responsible for absorbing nutrients from food. Because of this, people with celiac disease will likely be deficient in essential vitamins and nutrients when diagnosed. Laboratory tests should be done within three to six months following a diagnosis and annually for the rest of your life. […] Regular monitoring with blood tests can help to answer the following questions: Is the small intestine healing? Am I being followed and screened for common nutritional deficiencies and associated diseases? Am I getting better? Am I being exposed to gluten? […] Laboratory tests to include in celiac disease management include: Celiac disease antibodies (IgA-tTG), Nutritional anemia profile (hemoglobin, hematocrit, folate, ferritin, vitamin B12), Vitamin profile (thiamin, vitamin B6, 25-hydroxy vitamin D), Mineral profile (copper, zinc), Lipid profile, Electrolyte and renal profile, Complete blood count (CBC), Thyroid stimulating hormone (TSH), For adults, a bone mineral density scan within the first year after diagnosis.
  • #1 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.
  • #1 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.
  • #1 Celiac Disease: Symptoms & How It’s Treated
    https://my.clevelandclinic.org/health/diseases/14240-celiac-disease
    Celiac disease does visible damage to your small intestine. Celiac disease erodes the lining of your small intestine. 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. 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 continue to have symptoms, it may be that you’re consuming small amounts of gluten without realizing it, or you may have a secondary condition. Only 5% of people have truly refractory celiac disease that doesn’t respond to diet.
  • #1
    https://journals.lww.com/ajg/fulltext/2023/01000/american_college_of_gastroenterology_guidelines.17.aspx
    RCD refers to ongoing symptoms and/or signs of malabsorption with intestinal villus atrophy despite the evidence of strict adherence to a GFD for at least 12 months. This is relatively rare outside of referral centers, comprising 1% of patients with CD. Central to the initial assessment is the differentiation between RCD types 1 and 2 by assessment for immunostains (CD3 and CD8), T-cell clonality through T-cell receptor polymerase chain reaction (PCR), and/or flow cytometric analysis of duodenal biopsy specimens.
  • #1 Testing & Diagnosis | 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-miniarrow
    https://celiac.org/about-celiac-disease/screening-and-diagnosis/
    There are two steps to finding out if you have celiac disease: testing and diagnosis. You should always consult with a physician experienced with celiac disease to ensure proper diagnosis.
  • #1 Celiac Disease: Diagnosis & Treatment | NewYork-Presbyterian
    https://www.nyp.org/pediatrics/digestive-diseases/celiac-disease/treatment
    How is Celiac Disease Diagnosed? Diagnosis The first step in the diagnosis of celiac disease is a screening blood test that any doctor or provider can order. If this test is positive, the next step is to confirm the diagnosis with an upper endoscopy with biopsies. […] Blood tests Test for antibodies to gluten. Elevated levels of celiac antibodies indicate a response of the immune system to gluten, which is typical in people with celiac disease. […] Genetic blood tests are done to determine if the child has a gene necessary to develop celiac disease. If the child lacks the gene, it is highly unlikely to develop celiac disease during their lifetime. […] Upper Endoscopy. During an endoscopy, a pediatric gastroenterologist uses a flexible tube with a camera to evaluate the upper digestive tract and take tissue samples for biopsy. Celiac disease is confirmed if the tissue is inflamed and damaged when examined under a microscope.
  • #1 Diagnosing Celiac Disease & Gluten Sensitivity | NYU Langone Health
    https://nyulangone.org/conditions/celiac-disease-gluten-sensitivity/diagnosis
    If a gastroenterologist suspects celiac disease, he or she may suggest a procedure called an upper endoscopy to obtain biopsies, or tissue samples, of the small intestine. By analyzing the tissue samples under a microscope, doctors can confirm whether celiac disease is the cause of symptoms. […] If a person’s symptoms, blood tests, and biopsy results are consistent with celiac disease, doctors prescribe a strict, lifelong, gluten-free diet and recommend testing to monitor for celiac disease-related health issues. […] Currently, there is no test for gluten sensitivity. People with digestive symptoms that suggest celiac disease should see a gastroenterologist to determine their risk for either celiac disease or gluten sensitivity.
  • #1 Celiac Disease Testing: What to Expect Before Diagnosis | My Vanderbilt Health
    https://my.vanderbilthealth.com/testing-diagnosis-for-celiac-disease/
    Diagnosis for this autoimmune disorder requires a two-step testing process. […] For adult patients, a diagnosis requires a positive blood test for celiac antibodies and a biopsy of the small intestine that shows certain histological features that are consistent with celiac disease, said Dr. Dawn Adams, a gastroenterologist, director of the Vanderbilt Celiac Clinic and medical director of the Vanderbilt Center for Human Nutrition. […] Usually someone undergoes the blood test first, followed by the biopsy if they receive a positive result. […] Gastroenterology guidelines requires both the biopsy and blood test to diagnose adults. […] A positive blood test but a negative biopsy could indicate a different autoimmune disease and warrant further testing, Adams explained. […] If you have a blood test that is 10 times the upper limit of normal on two separate occasions, Adams explained, then you can diagnose celiac disease without a biopsy. […] Diagnosing celiac disease is crucial because when left untreated celiac disease can lead to long-term health effects, like other autoimmune disorders and nutrient deficiencies.
  • #2 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.
  • #2 Celiac Disease: Symptoms, Causes, and Treatment
    https://www.webmd.com/digestive-disorders/celiac-disease/celiac-disease
    Most people with celiac disease never know they have it. Researchers think that as few as 20% of people with the disease get the right diagnosis. […] It can be hard to diagnose celiac disease because its symptoms are so common and look like those of many other digestive issues. […] If your doctor thinks you may have it, they’ll start by asking you questions about your symptoms and about your personal and family health history. They’ll likely do a physical exam to see whether you have physical signs of the disease. Then they’ll do lab tests to make a diagnosis. […] The main types of tests used to diagnose celiac disease are: Blood tests. Your doctor will start by testing a small sample of your blood for antibodies to gluten (called lymphocytes). This is called serology testing. […] If you’re diagnosed with celiac disease, your doctor will do further tests to see if you have nutrient deficiencies and other complications. This helps them see how far the condition has progressed and determine what issues they need to treat.
  • #2 Celiac Disease (Sprue) Workup: Approach Considerations, Laboratory Studies, Imaging Studies
    https://emedicine.medscape.com/article/171805-workup
    The ESsCD has the following recommendations for serology: IgA-TG2 (immunoglobulin A-tissue transglutaminase 2) antibody is the preferred single test for CD detection at any age. […] Concurrently measure total IgA level with serology testing to determine whether IgA levels are sufficient. […] At diagnosis and follow-up, perform IgG-based testing (IgG-DGPs [deamidated gliadin peptides] or IgG-TG2) in patients with selective total IgA-deficiency. […] Perform all diagnostic serologic testing while patients are on a gluten-containing diet. […] Antibodies directed against native gliadin (AGA) are not recommended for primary CD detection.
  • #2
    https://journals.lww.com/ajg/fulltext/2023/01000/american_college_of_gastroenterology_guidelines.17.aspx
    The primary concern about advocating a nonbiopsy approach for adults is the relative paucity of data regarding the positive predictive value of serology in adults, as compared with the more extensive body of literature in children. […] The diagnostic approach to CD for adults incorporates serologic and histologic data and has not changed since the publication of the last version of the ACG Guidelines. Testing should be considered in patients with signs or symptoms suggestive of CD, including diarrhea, weight loss, abdominal pain and bloating, or laboratory abnormalities such as unexplained elevated serum aminotransferase levels. Testing of asymptomatic individuals in populations at higher risk of CD can be considered. […] Serologic testing for CD should consist of measuring TTG IgA while on a regular (gluten-containing) diet and, if the patient has not previously been tested for IgA deficiency, concurrent measurement of total IgA. Patients with an elevated TTG IgA level should proceed to EGD with duodenal biopsy.
  • #2 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.
  • #2 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.
  • #2 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/
  • #2 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.
  • #2 Endoscopy/Biopsy for Celiac Disease: What to Expect
    https://www.massgeneral.org/children/celiac-disease/endoscopy-biopsy-for-celiac-disease-what-to-expect
    You/your child are scheduled to have an endoscopy and/or biopsy. These procedures are helpful for figuring out if a person has celiac disease. […] Endoscopies and biopsies are the best way to diagnose celiac disease. A gastroenterologist (doctor who treats people with disorders of the stomach and intestines) will do an endoscopy if your/your child’s blood tests or genetic tests show signs of celiac disease. […] Doctors use a system called Modified Marsh Scores to check the level of damage to the small intestine caused by celiac disease. Marsh scores range from stage 0, 1, and 2 to stage 3a, b, or c. Most doctors diagnose people with celiac disease with a Marsh score above 3. […] There are two instances in which you/your child can be diagnosed with celiac disease without an endoscopy and/or biopsy.
  • #2 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. […] 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.
  • #2 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 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.
  • #2
    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. […] A nonbiopsy diagnosis requires that the family agrees with this approach. Given the high positive predictive value of serology and the European experience of a biopsy-free approach for symptomatic children, this approach is a reasonable alternative to the standard approach to a CD diagnosis in selected children.
  • #2 Celiac Disease: Diagnosis and Management | AAFP
    https://www.aafp.org/pubs/afp/issues/2014/0115/p99.html
    Serologic tests alone are typically not sufficient to diagnose celiac disease. A small bowel biopsy is required, and persons with a positive serologic test result should be referred for esophagogastroduodenoscopy, as should those with initially negative results in whom there is high suspicion. […] To confirm the diagnosis, the biopsy must show the histopathologic findings (various degrees of villous atrophy) associated with small intestinal malabsorption. […] An exception to the confirmatory intestinal biopsy requirement is persons who have a skin biopsy with the typical histopathology of dermatitis herpetiformis, because 80% of these patients have an abnormal biopsy. […] Because of the possibility of false-negative results, these tests need to be performed before the initiation of dietary gluten restriction.