Choroba trzewna – Rokowania, prognozy i postęp choroby

Choroba trzewna
Rokowania, prognozy i postęp choroby

Choroba trzewna (celiakia) to przewlekła autoimmunologiczna enteropatia wywołana spożyciem glutenu u osób genetycznie predysponowanych, charakteryzująca się zapaleniem dwunastnicy. Rokowanie zależy od czasu diagnozy, przestrzegania diety bezglutenowej oraz rozwoju powikłań. Wczesne wykrycie i ścisłe stosowanie diety prowadzi do cofnięcia większości uszkodzeń i poprawy jakości życia, jednak chorzy mają nieznacznie podwyższone ryzyko śmiertelności, zwłaszcza z powodu chorób sercowo-naczyniowych (wzrost ryzyka o 27%, HR=1,27; 95% CI: 1,11-1,45), nowotworów jelita cienkiego (4-krotnie wyższe ryzyko) oraz chorób układu oddechowego. Późna diagnoza (po 50. roku życia) i nieprzestrzeganie diety zwiększają śmiertelność, a ryzyko powikłań nowotworowych, takich jak chłoniaki jelitowe (ok. 7% przypadków) i gruczolakorak jelita cienkiego, jest istotne. Oporna choroba trzewna (RCD), występująca u około 5% pacjentów, wiąże się z wysoką śmiertelnością, zwłaszcza typu 2, gdzie czynniki ryzyka 5-letniej śmiertelności to wiek diagnozy (HR=2,21 na każde 20 lat; 95% CI: 1,38-3,55), nieprawidłowe śródnabłonkowe limfocyty (HR=2,85; 95% CI: 1,22-6,62) oraz niskie stężenie albuminy (HR=0,72 na wzrost o 0,5 g/dl; 95% CI: 0,61-0,85).

Rokowanie w chorobie trzewnej (Celiac disease Prognosis)

Choroba trzewna (ang. celiac disease) to przewlekła choroba autoimmunologiczna dotycząca wielu narządów, charakteryzująca się zapaleniem dwunastnicy u osób predysponowanych genetycznie, wywoływana przez spożycie glutenu. ¹ Rokowanie w chorobie trzewnej jest złożone i zależy od wielu czynników, w tym czasu diagnozy, ścisłego przestrzegania diety bezglutenowej oraz rozwoju potencjalnych powikłań.

Ogólne rokowanie w chorobie trzewnej

Ogólnie rokowanie dla pacjentów z prawidłowo zdiagnozowaną i leczoną chorobą trzewną jest doskonałe. ¹ Większość uszkodzeń spowodowanych przez chorobę trzewną może zostać cofnięta po wprowadzeniu diety bezglutenowej. ² Jednak badania pokazują, że osoby z chorobą trzewną mają nieznacznie, ale istotnie zwiększoną śmiertelność w porównaniu do populacji ogólnej. ³

Największe badanie tego rodzaju, analizujące długoterminowe dane zdrowotne pacjentów z chorobą trzewną w Szwecji w latach 1969-2017, wykazało zwiększone ryzyko zgonu ze wszystkich przyczyn. Analizując poszczególne przyczyny, pacjenci z chorobą trzewną wykazywali nieznacznie, ale istotnie wyższe ryzyko zgonu z powodu chorób sercowo-naczyniowych, nowotworów lub chorób układu oddechowego, takich jak grypa i zapalenie płuc. ³

Czynniki wpływające na rokowanie

Wiek diagnozy

Wiek w momencie diagnozy choroby trzewnej ma istotny wpływ na rokowanie. Badania wykazały, że późna diagnoza (po 50. roku życia) i/lub nieprzestrzeganie ścisłej diety bezglutenowej może prowadzić do wyższej śmiertelności w porównaniu do populacji ogólnej. ⁴ Wczesne wykrycie choroby trzewnej jest kluczowe, ponieważ szybka interwencja i leczenie mogą znacząco poprawić jakość życia pacjentów i spowolnić postęp choroby. ⁵

Badanie kohortowe wykazało, że ryzyko śmiertelności dotyczyło wszystkich grup wiekowych, ale było najbardziej podwyższone wśród dorosłych w wieku 18-39 lat. Było ono najwyższe w pierwszym roku po diagnozie, ale pozostawało istotne nawet po 10 latach stosowania diety bezglutenowej. ³

Przestrzeganie diety bezglutenowej

Jedyną obecnie dostępną metodą leczenia choroby trzewnej jest dożywotnia, ścisła dieta bezglutenowa, która prowadzi do poprawy jakości życia, złagodzenia objawów i zapobiegania wystąpieniu opornej choroby trzewnej, wrzodziejącego zapalenia jelita cienkiego oraz gruczolakoraka i chłoniaka jelita cienkiego. ⁶ Przestrzeganie diety bezglutenowej wykazało skuteczne hamowanie rozwoju chłoniaka T-komórkowego związanego z enteropatią (EATL). ⁷

Jeśli diagnoza następuje po wielu latach lub pacjent nie przestrzega diety bezglutenowej, skutki choroby trzewnej mogą być poważniejsze i długotrwałe. Niedożywienie może wpływać na układ nerwowy i szkieletowy, a niektóre z tych efektów są trudne do odwrócenia, szczególnie gdy występują podczas rozwoju dziecka. ⁸

Powikłania wpływające na rokowanie

Oporna choroba trzewna (RCD)

Oporna choroba trzewna (Refractory Celiac Disease, RCD) występuje u około 5% pacjentów mimo ścisłego przestrzegania diety bezglutenowej. Charakteryzuje się objawami zespołu złego wchłaniania, utratą masy ciała, biegunką, wzdęciem brzucha i anemią. ⁹ RCD może prowadzić do powikłań, takich jak wrzodziejące zapalenie jelita cienkiego, sprue kolagenowa i chłoniak jelitowy. ¹⁰

RCD stanowi około 10% wszystkich przypadków opornej choroby trzewnej u dorosłych (OACD) i około 11,5% wszystkich przypadków choroby trzewnej. ¹⁰ Śmiertelność pacjentów z RCD typu 2 wynika głównie z rozwoju chłoniaka jelitowego, który występuje częściej u mężczyzn, chociaż choroba trzewna jest częściej wykrywana u kobiet. ¹⁰

Z analizy wieloczynnikowego modelu proporcjonalnego hazardu Coxa wynika, że następujące zmienne były istotnie związane z 5-letnią śmiertelnością w opornej chorobie trzewnej: wiek w momencie diagnozy RCD (na każde 20 lat wzrostu, współczynnik ryzyka = 2,21; 95% przedział ufności, CI: 1,38-3,55), nieprawidłowe śródnabłonkowe limfocyty (współczynnik ryzyka = 2,85; 95% CI: 1,22-6,62) oraz stężenie albuminy (na każdy wzrost o 0,5 jednostki, współczynnik ryzyka = 0,72; 95% CI: 0,61-0,85). ¹¹

Ryzyko nowotworowe

Związek między chorobą trzewną a nowotworami jest znany od ponad 50 lat, a opóźniona diagnoza choroby trzewnej naraża pacjentów na zwiększone ryzyko rozwoju chorób nowotworowych. ¹² Pacjenci z chorobą trzewną są narażeni na zwiększone ryzyko rozwoju nowotworów, ze szczególną predyspozycją do pewnych typów nowotworów jelitowych, chłoniaków i nowotworów jamy ustnej i gardła. ¹³

Gruczolakorak jelita cienkiego jest niezwykle rzadkim nowotworem w populacji ogólnej, ale jest znacznie częstszy u pacjentów z chorobą trzewną. ¹² Ryzyko rozwoju gruczolakoraka jelita cienkiego, choć stosunkowo niskie, powinno być uważnie rozważane, ponieważ jest wyższe u pacjentów z chorobą trzewną w porównaniu do zdrowych osób. ¹⁴

Przewlekły stan zapalny prowadzi do zwiększonego ryzyka raka w jelicie cienkim. Badania wykazują, że około 7% osób z chorobą trzewną rozwija chłoniaki jelitowe, zwykle po kilku dekadach. Istnieje również nieznacznie zwiększone ryzyko gruczolakoraka jelitowego i nowotworów przełyku. ¹⁵ Osoby z chorobą trzewną mają 2-krotnie większe ryzyko rozwoju choroby wieńcowej serca i 4-krotnie większe ryzyko rozwoju nowotworów jelita cienkiego. ¹⁶

Choroby sercowo-naczyniowe

Badania wykazały, że osoby z chorobą trzewną mają niższą częstość występowania tradycyjnych czynników ryzyka chorób sercowo-naczyniowych, takich jak skurczowe ciśnienie krwi, całkowity cholesterol i wskaźnik masy ciała, ale wyższe ryzyko rozwoju chorób sercowo-naczyniowych niż osoby bez choroby trzewnej. ¹⁷

Choroba trzewna była związana z 27% zwiększonym ryzykiem chorób sercowo-naczyniowych w porównaniu z uczestnikami, którzy nie mieli choroby trzewnej (współczynnik ryzyka 1,27 (95% przedział ufności 1,11 do 1,45)). ¹⁷ Badania wykazały zależność dawka-odpowiedź między czasem od diagnozy choroby trzewnej a ryzykiem chorób sercowo-naczyniowych. W porównaniu z osobami, które nie mają choroby trzewnej, osoby, które miały chorobę trzewną przez mniej niż 10 lat, miały 30% zwiększone ryzyko, a osoby, które miały chorobę trzewną przez 10 lat lub dłużej, miały 34% zwiększone ryzyko. ¹⁷

Inne choroby autoimmunologiczne

Nieleczona choroba trzewna może prowadzić do rozwoju innych chorób autoimmunologicznych, takich jak cukrzyca typu 1 i stwardnienie rozsiane (SM), a także wielu innych stanów, w tym opryszczkowatego zapalenia skóry (swędzącej wysypki skórnej), anemii, osteoporozy, niepłodności i poronień, chorób neurologicznych takich jak padaczka i migreny, niskiego wzrostu, chorób serca i nowotworów jelitowych. ¹⁸

W badaniu z 1999 roku Ventura i wsp. wykazali, że u osób z chorobą trzewną, im późniejszy wiek diagnozy, tym większe prawdopodobieństwo rozwoju innego zaburzenia autoimmunologicznego. ¹⁸ Badania pokazują, że szansa na rozwój innego stanu autoimmunologicznego wzrasta im dłużej choroba trzewna pozostaje nieleczona. ¹⁹

Rokowanie w oparciu o profil genetyczny

Choroba trzewna jest silnie związana z określonymi wariantami HLA, szczególnie HLA-DQ2.5 i HLA-DQ8. Zaobserwowano efekt dawki genów, gdzie homozygotyczność HLA-DQ2.5 w niektórych badaniach wiązała się z cięższą kliniczną prezentacją choroby trzewnej, chorobą oporną i wolniejszym tempem gojenia się jelit podczas leczenia. ²⁰

Ryzyko rozwoju choroby trzewnej jest znacznie wyższe u dzieci, które są homozygotami HLA-DQ2.5 (lub mają dwie kopie DQB1*02) niż wśród tych, które są heterozygotami HLA-DQ2.5 lub są pozytywne dla HLA-DQ8. ²¹

Genomiczne wyniki ryzyka dla choroby trzewnej, które są ukierunkowane na genetycznie zagrożone podgrupy, poprawiają wydajność predykcyjną poza tradycyjnymi podejściami i mogą stanowić użyteczną strategię dla priorytetyzacji osób o zwiększonym ryzyku choroby, potencjalnie zmniejszając niepotrzebne diagnostyczne testy follow-up. ²⁰

Powikłania przewlekłego niedożywienia i stanu zapalnego

Powikłania przewlekłego niedożywienia mogą obejmować:

Krzywicę u dzieci lub osteomalację u dorosłych ²²
Osteopenię i osteoporozę ²²
Trwałe wady szkliwa zębów ²²
Wpływ na układ nerwowy (neuropatia obwodowa), w tym mrowienie i drętwienie, skurcze mięśni oraz problemy z równowagą i koordynacją (ataksja) ²²
Opóźnienia wzrostu i rozwoju u dzieci, niski wzrost ²²
Zaburzenia uwagi i trudności w uczeniu się ²²

Powikłania przewlekłego stanu zapalnego mogą obejmować:

Obniżoną odporność – gdy układ odpornościowy jest przewlekle nadaktywny, ma mniej zasobów do zwalczania ostrego ataku, takiego jak infekcja, co może zwiększyć podatność na choroby ²³
Zwiększone ryzyko rozwoju innych chorób autoimmunologicznych ²³
Choroba trzewna może stać się coraz bardziej oporna na leczenie – osoby nieleczone dłużej są najbardziej narażone na rozwój choroby opornej ²³

Podsumowanie rokowania w chorobie trzewnej

Rokowanie w chorobie trzewnej jest generalnie dobre dla pacjentów, którzy są wcześnie zdiagnozowani i ściśle przestrzegają diety bezglutenowej. Większość uszkodzeń może zostać cofnięta, a jakość życia znacznie poprawiona. ²⁴ Jednak istnieje nieznacznie zwiększone ryzyko śmiertelności, szczególnie z powodu chorób sercowo-naczyniowych, nowotworów i chorób układu oddechowego. ²⁵

Czynniki wpływające negatywnie na rokowanie obejmują późną diagnozę, nieprzestrzeganie diety bezglutenowej, rozwój opornej choroby trzewnej oraz wystąpienie powikłań, takich jak nowotwory jelita cienkiego. ²⁶ ²⁷

Poza przestrzeganiem diety bezglutenowej, wszystkim pacjentom z chorobą trzewną zalecane są powszechnie akceptowane rekomendacje zdrowego stylu życia zapobiegające ryzyku nowotworów, takie jak spożywanie dużej ilości błonnika, aktywność fizyczna, zdrowa masa ciała i zaprzestanie palenia. ²⁸

Nowoczesne metody diagnostyczne, w tym zastosowanie zaawansowanych algorytmów uczenia maszynowego do analizy obrazów endoskopowych i badań genetycznych, mogą pomóc we wczesnym wykrywaniu choroby trzewnej, co jest kluczowe dla poprawy rokowania. ²⁹ ³⁰ ³¹

Kolejne rozdziały

Zapraszamy do dalszego czytania naszego leksykonu.

Wybierz kolejny rozdział z menu poniżej, aby otworzyć nową podstronę kompedium wiedzy i uzyskać szczegółowe informację o leku, substancji lub chorobie.

Materiały źródłowe

#1 Malignancies in Patients with Celiac Disease: Diagnostic Challenges and Molecular Advances
https://www.mdpi.com/2073-4425/14/2/376
Celiac disease (CD) is a multiorgan autoimmune disorder of the chronic intestinal disease group characterized by duodenal inflammation in genetically predisposed individuals, precipitated by gluten ingestion. […] Patients with CD are found to be at increased risk of developing malignancies, with a particular predisposition of certain types of intestinal cancer, lymphomas, and oropharyngeal cancers. […] A higher mortality rate in patients with CD is associated with several types of malignancies. […] One of the latest nationwide cohort studies in Sweden reports that patients with CD are, overall, at an increased risk of developing malignancies, especially those diagnosed with CD after the age of 40, with a particular predisposition for lymphoma, oropharyngeal, and intestinal cancer. […] The risk of lymphoproliferative malignancies was increased in CD patients and in those with inflammation; however, in subjects with only positive serology, a risk of lymphoma development was similar to that of the general population.
#1 Celiac Disease (Sprue): Background, Pathophysiology, Etiology
https://emedicine.medscape.com/article/171805-guidelines
The prognosis for patients with correctly diagnosed and treated celiac disease is excellent. The prognosis for patients with celiac disease who are not responding to gluten withdrawal and corticosteroid treatment is generally poor. […] Although rarely lethal, celiac disease is a significant and often debilitating maldigestion and malabsorption syndrome affecting multiple organ systems. Patients with celiac disease are at an increased risk for complications, such as lymphomas and adenocarcinomas of the intestinal tract. […] Refractory celiac disease occurs in approximately 5% of patients despite strict adherence to a gliadin-free diet. Refractory celiac disease is characterized by symptoms of malabsorption, weight loss, diarrhea, abdominal distention, and anemia.
#2 Celiac Disease: Symptoms & How It’s Treated
https://my.clevelandclinic.org/health/diseases/14240-celiac-disease
Most people whove been diagnosed and have stopped eating gluten have an excellent prognosis. Most of the damage done by celiac disease can be undone. […] If you go many years before being diagnosed or you dont 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. […] Complications of chronic malnutrition can include: Rickets in children or osteomalacia in adults. Osteopenia and osteoporosis. Permanent dental enamel defects. Nervous system effects (peripheral neuropathy), including tingling and numbness, muscle spasms and balance and coordination problems (ataxia). Growth and developmental delays in children, short stature. Attention and learning disabilities.
#3 Study Shows Slightly Increased Mortality in Celiac Disease | Celiac Disease FoundationBack to HomeBack to HomeAbout the DiseaseGluten-Free ResourcesResearch ResourcesAdvocacy and Public PolicyJoin the EffortSupport the FoundationShare on FacebookShare on
https://celiac.org/study-shows-slightly-increased-mortality-in-celiac-disease/
People with celiac disease have a small but significantly increased mortality rate. The finding comes from the largest study of its kind, which used long-term health records of celiac patients in Sweden between 1969 and 2017. […] A higher risk was seen in all causes of death combined. With causes separated, celiac patients also showed a slightly but significantly higher risk of dying from cardiovascular disease, cancer or respiratory diseases such as flu and pneumonia. […] Mortality risk affected all age groups but was most elevated among adults between 18 and 39 years of age. It was highest during the first year after diagnosis yet remained significant even after 10 years of following a gluten-free diet. […] Previous smaller studies found no effect on mortality, while a study of 30,000 patients found slightly higher mortality. However, this latest research used data from the largest number of deaths and allowed comparison of patients over decades of gluten-free diet management. It added weight to the finding of a UK study of 1,000 patients showing that mortality risk had not decreased over time. In the Swedish data, increased mortality rate was still seen among those who entered treatment from 2010 to 2017.
#4 Celiac disease: a comprehensive current review | BMC Medicine | Full Text
https://bmcmedicine.biomedcentral.com/articles/10.1186/s12916-019-1380-z
RCD can lead to complications such as ulcerative jejunoileitis, collagenous sprue, and intestinal lymphoma. […] RCD represents about 10% of all OACD cases and approximately 11.5% of total cases of CD. […] The mortality of patients with type 2 RCD is primarily due to the development of intestinal lymphoma, which appears to occur more often in male patients, although CD is more commonly detectable in female patients. […] It has been widely shown that a late diagnosis of CD (after the age of 50) and/or not following a strict GFD can lead to a higher mortality compared to that of the general population. […] The association between CD and cancers has been known for over 50years and a delayed diagnosis of CD exposes patients to an increased risk of developing neoplastic diseases. […] Small bowel adenocarcinoma is an extremely rare cancer in the general population but it is much more common in patients with CD.
#5 Rapid diagnosis of celiac disease based on plasma Raman spectroscopy combined with deep learning | Scientific Reports
https://www.nature.com/articles/s41598-024-64621-4
Celiac Disease (CD) is a primary malabsorption syndrome resulting from the interplay of genetic, immune, and dietary factors. […] Therefore, establishing a rapid and accurate diagnostic method is of paramount importance for achieving early detection of CD and reducing associated damages. […] Early detection of CD is crucial, as timely intervention and treatment can significantly improve patients’ quality of life and slow down disease progression. […] The DRSN model outperforms CNN, MCNN, and ResNet in accuracy, specificity, sensitivity, and precision. […] The proposed deep learning models, in conjunction with celiac disease Raman spectra data, advance technology in the Raman spectroscopy field and enrich diagnostic approaches for celiac disease. […] This study provides strong empirical support for combining Raman spectroscopy and deep learning models for celiac disease diagnosis. […] Ultimately, our research results indicate that DRSN has achieved significant success in the classification and diagnosis of celiac disease and healthy controls.
#6 Celiac disease: a comprehensive current review | BMC Medicine | Full Text
https://bmcmedicine.biomedcentral.com/articles/10.1186/s12916-019-1380-z
Celiac disease remains a challenging condition because of a steady increase in knowledge tackling its pathophysiology, diagnosis, management, and possible therapeutic options. […] Currently, the only treatment for celiac disease is a life-long, strict gluten-free diet leading to improvement in quality of life, ameliorating symptoms, and preventing the occurrence of refractory celiac disease, ulcerative jejunoileitis, and small intestinal adenocarcinoma and lymphoma. […] The present review is timely and provides a thorough appraisal of various aspects characterizing celiac disease. Remaining challenges include obtaining a better understanding of still-unclear phenotypes such as slow-responsive, potential (minimal lesions) and seronegative celiac disease. […] The potential form of CD is characterized by positive serological and genetic markers with a normal intestinal mucosa and minimal signs of inflammation such an increase in IELs.
#7 Malignancies in Patients with Celiac Disease: Diagnostic Challenges and Molecular Advances
https://www.mdpi.com/2073-4425/14/2/376
The adherence to a gluten-free diet has shown an effective inhibition of EATL. […] The risk of small bowel adenocarcinoma development, even relatively low, should be carefully considered, being higher in CD patients compared to healthy individuals. […] Overall, in addition to following the gluten-free diet, all CD patients are given the widely accepted recommendations of a healthy lifestyle preventing cancer risks, such as high fiber consumption, physical activity, healthy body mass, and smoking cessation.
#8 Celiac Disease: Symptoms & How It’s Treated
https://my.clevelandclinic.org/health/diseases/14240-celiac-disease
Most people whove been diagnosed and have stopped eating gluten have an excellent prognosis. Most of the damage done by celiac disease can be undone. […] If you go many years before being diagnosed or you dont 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. […] Complications of chronic malnutrition can include: Rickets in children or osteomalacia in adults. Osteopenia and osteoporosis. Permanent dental enamel defects. Nervous system effects (peripheral neuropathy), including tingling and numbness, muscle spasms and balance and coordination problems (ataxia). Growth and developmental delays in children, short stature. Attention and learning disabilities.
#9 Celiac Disease (Sprue): Background, Pathophysiology, Etiology
https://emedicine.medscape.com/article/171805-guidelines
The prognosis for patients with correctly diagnosed and treated celiac disease is excellent. The prognosis for patients with celiac disease who are not responding to gluten withdrawal and corticosteroid treatment is generally poor. […] Although rarely lethal, celiac disease is a significant and often debilitating maldigestion and malabsorption syndrome affecting multiple organ systems. Patients with celiac disease are at an increased risk for complications, such as lymphomas and adenocarcinomas of the intestinal tract. […] Refractory celiac disease occurs in approximately 5% of patients despite strict adherence to a gliadin-free diet. Refractory celiac disease is characterized by symptoms of malabsorption, weight loss, diarrhea, abdominal distention, and anemia.
#10 Celiac disease: a comprehensive current review | BMC Medicine | Full Text
https://bmcmedicine.biomedcentral.com/articles/10.1186/s12916-019-1380-z
RCD can lead to complications such as ulcerative jejunoileitis, collagenous sprue, and intestinal lymphoma. […] RCD represents about 10% of all OACD cases and approximately 11.5% of total cases of CD. […] The mortality of patients with type 2 RCD is primarily due to the development of intestinal lymphoma, which appears to occur more often in male patients, although CD is more commonly detectable in female patients. […] It has been widely shown that a late diagnosis of CD (after the age of 50) and/or not following a strict GFD can lead to a higher mortality compared to that of the general population. […] The association between CD and cancers has been known for over 50years and a delayed diagnosis of CD exposes patients to an increased risk of developing neoplastic diseases. […] Small bowel adenocarcinoma is an extremely rare cancer in the general population but it is much more common in patients with CD.
#11 Creation of a model to predict survival in patients with refractory coeliac disease using a multinational registry – PubMed
https://pubmed.ncbi.nlm.nih.gov/27485029/
Refractory coeliac disease is a severe complication of coeliac disease with heterogeneous outcome. […] To create a prognostic model to estimate survival of patients with refractory coeliac disease. […] The multinational cohort was composed of 232 patients diagnosed with refractory coeliac disease across seven centres (range of 11-63 cases per centre). […] A total of 51 subjects died during a 5-year follow-up (cumulative 5-year all-cause mortality = 30%). […] From a multiple variable Cox proportional hazards model, the following variables were significantly associated with 5-year mortality: age at refractory coeliac disease diagnosis (per 20 year increase, hazard ratio = 2.21; 95% confidence interval, CI: 1.38-3.55), abnormal intraepithelial lymphocytes (hazard ratio = 2.85; 95% CI: 1.22-6.62), and albumin (per 0.5 unit increase, hazard ratio = 0.72; 95% CI: 0.61-0.85). […] Using data from a multinational registry and previously reported risk factors, we create a prognostic model to predict 5-year mortality among patients with refractory coeliac disease. This new model may help clinicians to guide treatment and follow-up.
#12 Celiac disease: a comprehensive current review | BMC Medicine | Full Text
https://bmcmedicine.biomedcentral.com/articles/10.1186/s12916-019-1380-z
RCD can lead to complications such as ulcerative jejunoileitis, collagenous sprue, and intestinal lymphoma. […] RCD represents about 10% of all OACD cases and approximately 11.5% of total cases of CD. […] The mortality of patients with type 2 RCD is primarily due to the development of intestinal lymphoma, which appears to occur more often in male patients, although CD is more commonly detectable in female patients. […] It has been widely shown that a late diagnosis of CD (after the age of 50) and/or not following a strict GFD can lead to a higher mortality compared to that of the general population. […] The association between CD and cancers has been known for over 50years and a delayed diagnosis of CD exposes patients to an increased risk of developing neoplastic diseases. […] Small bowel adenocarcinoma is an extremely rare cancer in the general population but it is much more common in patients with CD.
#13 Malignancies in Patients with Celiac Disease: Diagnostic Challenges and Molecular Advances
https://www.mdpi.com/2073-4425/14/2/376
Celiac disease (CD) is a multiorgan autoimmune disorder of the chronic intestinal disease group characterized by duodenal inflammation in genetically predisposed individuals, precipitated by gluten ingestion. […] Patients with CD are found to be at increased risk of developing malignancies, with a particular predisposition of certain types of intestinal cancer, lymphomas, and oropharyngeal cancers. […] A higher mortality rate in patients with CD is associated with several types of malignancies. […] One of the latest nationwide cohort studies in Sweden reports that patients with CD are, overall, at an increased risk of developing malignancies, especially those diagnosed with CD after the age of 40, with a particular predisposition for lymphoma, oropharyngeal, and intestinal cancer. […] The risk of lymphoproliferative malignancies was increased in CD patients and in those with inflammation; however, in subjects with only positive serology, a risk of lymphoma development was similar to that of the general population.
#14 Malignancies in Patients with Celiac Disease: Diagnostic Challenges and Molecular Advances
https://www.mdpi.com/2073-4425/14/2/376
The adherence to a gluten-free diet has shown an effective inhibition of EATL. […] The risk of small bowel adenocarcinoma development, even relatively low, should be carefully considered, being higher in CD patients compared to healthy individuals. […] Overall, in addition to following the gluten-free diet, all CD patients are given the widely accepted recommendations of a healthy lifestyle preventing cancer risks, such as high fiber consumption, physical activity, healthy body mass, and smoking cessation.
#15 Celiac Disease: Symptoms & How It’s Treated
https://my.clevelandclinic.org/health/diseases/14240-celiac-disease
Complications of chronic inflammation can include: Compromised immunity. When your immune system is chronically overactive, its left with fewer resources to address an acute attack, such as an infection. This can make you more vulnerable to getting sick. It also makes other autoimmune diseases more likely to trigger. Studies show your chance of developing another autoimmune condition goes up the longer celiac disease goes untreated. Celiac disease itself may also become increasingly slow to respond to treatment. Those who go untreated longer are most at risk of developing refractory disease. […] Chronic inflammation leads to an increased risk of cancer in your small intestine. Studies show about 7% of people with celiac disease develop intestinal lymphomas, usually after several decades. Theres also a slightly increased risk of intestinal adenocarcinoma and esophageal cancers.
#16 What is 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-miniR
https://celiac.org/about-celiac-disease/what-is-celiac-disease/
Celiac disease can develop at any age after people start consuming gluten. Left untreated, celiac disease can lead to additional serious health problems. […] People with celiac disease have a 2x greater risk of developing coronary artery disease, and a 4x greater risk of developing small bowel cancers. […] The treatment burden of celiac disease is comparable to end-stage renal disease, and the partner burden is comparable to caring for a patient with cancer. […] Untreated celiac disease can lead to the development of other autoimmune disorders like type 1 diabetes and multiple sclerosis (MS), and many other conditions, including dermatitis herpetiformis (an itchy skin rash), anemia, osteoporosis, infertility and miscarriage, neurological conditions like epilepsy and migraines, short stature, heart disease, and intestinal cancers. […] In a 1999 study, Ventura, et al. found that for people with celiac disease, the later the age of diagnosis, the greater the chance of developing another autoimmune disorder.
#17 Association between coeliac disease and cardiovascular disease: prospective analysis of UK Biobank data | BMJ Medicine
https://bmjmedicine.bmj.com/content/2/1/e000371
Individuals with coeliac disease had a lower prevalence of traditional cardiovascular risk factors, such as systolic blood pressure, total cholesterol, and body mass index, but a higher risk of developing cardiovascular disease, than people with no coeliac disease. […] Coeliac disease was associated with a 27% increased risk of cardiovascular disease compared with participants who did not have coeliac disease (hazard ratio 1.27 (95% confidence interval 1.11 to 1.45)). […] The findings remained similar after using multiple imputation to account for missing data. […] Evidence of a dose-response association between time since coeliac disease diagnosis and risk of cardiovascular disease was reported. Compared with people who do not have coeliac disease, people who had coeliac disease for less than 10 years had a 30% increased risk, and people who had coeliac disease for 10 years or more had a 34% increased risk. […] This study highlights the importance of cardiovascular disease as a potential complication of coeliac disease.
#18 What is 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-miniR
https://celiac.org/about-celiac-disease/what-is-celiac-disease/
Celiac disease can develop at any age after people start consuming gluten. Left untreated, celiac disease can lead to additional serious health problems. […] People with celiac disease have a 2x greater risk of developing coronary artery disease, and a 4x greater risk of developing small bowel cancers. […] The treatment burden of celiac disease is comparable to end-stage renal disease, and the partner burden is comparable to caring for a patient with cancer. […] Untreated celiac disease can lead to the development of other autoimmune disorders like type 1 diabetes and multiple sclerosis (MS), and many other conditions, including dermatitis herpetiformis (an itchy skin rash), anemia, osteoporosis, infertility and miscarriage, neurological conditions like epilepsy and migraines, short stature, heart disease, and intestinal cancers. […] In a 1999 study, Ventura, et al. found that for people with celiac disease, the later the age of diagnosis, the greater the chance of developing another autoimmune disorder.
#19 Celiac Disease: Symptoms & How It’s Treated
https://my.clevelandclinic.org/health/diseases/14240-celiac-disease
Complications of chronic inflammation can include: Compromised immunity. When your immune system is chronically overactive, its left with fewer resources to address an acute attack, such as an infection. This can make you more vulnerable to getting sick. It also makes other autoimmune diseases more likely to trigger. Studies show your chance of developing another autoimmune condition goes up the longer celiac disease goes untreated. Celiac disease itself may also become increasingly slow to respond to treatment. Those who go untreated longer are most at risk of developing refractory disease. […] Chronic inflammation leads to an increased risk of cancer in your small intestine. Studies show about 7% of people with celiac disease develop intestinal lymphomas, usually after several decades. Theres also a slightly increased risk of intestinal adenocarcinoma and esophageal cancers.
#20 Genomic prediction of celiac disease targeting HLA-positive individuals | Genome Medicine | Full Text
https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-015-0196-5
Genomic risk scores for CD that target genetically at-risk sub-groups improve predictive performance beyond traditional approaches and may represent a useful strategy for prioritizing individuals at increased risk of disease, thus potentially reducing unnecessary follow-up diagnostic tests. […] The presence of at least one of the CD-related HLA haplotypes, while necessary for the development of disease, carries little predictive value for eventual CD development and therefore has no role as a sole diagnostic for CD. […] A gene-dose effect has been reported, with HLA-DQ2.5 homozygosity associated in some studies with a more severe clinical presentation of CD, refractory disease, and a slower rate of intestinal healing on treatment. […] Collectively, these studies highlight the important role of the HLA risk haplotypes, especially HLA-DQ2.5, in CD development, prognosis, and clinical behavior, but also highlight the current limitations in the clinical utility of HLA typing.
#21 Genomic prediction of celiac disease targeting HLA-positive individuals | bioRxiv
https://www.biorxiv.org/content/10.1101/017608v3.full-text
Genomic risk scores for CD that target genetically at-risk sub-groups improve predictive performance beyond traditional approaches and may represent a useful strategy for prioritizing individuals at increase risk of disease, thus potentially reducing unnecessary follow-up diagnostic tests. […] The presence of at least one of the CD-related HLA haplotypes, while necessary for the development of disease, carries little predictive value for eventual CD development and therefore has no role as a sole diagnostic for CD. […] Notwithstanding the limited clinical role of HLA typing, there has been renewed interest in the role of specific HLA alleles in the development on CD, with the risk of CD being far higher in children who are HLA-DQ2.5 homozygous (or have two copies of DQB1*02) than among those who are HLA-DQ2.5 heterozygous or are positive for HLA-DQ8.
#22 Celiac Disease: Symptoms & How It’s Treated
https://my.clevelandclinic.org/health/diseases/14240-celiac-disease
Most people whove been diagnosed and have stopped eating gluten have an excellent prognosis. Most of the damage done by celiac disease can be undone. […] If you go many years before being diagnosed or you dont 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. […] Complications of chronic malnutrition can include: Rickets in children or osteomalacia in adults. Osteopenia and osteoporosis. Permanent dental enamel defects. Nervous system effects (peripheral neuropathy), including tingling and numbness, muscle spasms and balance and coordination problems (ataxia). Growth and developmental delays in children, short stature. Attention and learning disabilities.
#23 Celiac Disease: Symptoms & How It’s Treated
https://my.clevelandclinic.org/health/diseases/14240-celiac-disease
Complications of chronic inflammation can include: Compromised immunity. When your immune system is chronically overactive, its left with fewer resources to address an acute attack, such as an infection. This can make you more vulnerable to getting sick. It also makes other autoimmune diseases more likely to trigger. Studies show your chance of developing another autoimmune condition goes up the longer celiac disease goes untreated. Celiac disease itself may also become increasingly slow to respond to treatment. Those who go untreated longer are most at risk of developing refractory disease. […] Chronic inflammation leads to an increased risk of cancer in your small intestine. Studies show about 7% of people with celiac disease develop intestinal lymphomas, usually after several decades. Theres also a slightly increased risk of intestinal adenocarcinoma and esophageal cancers.
#24 Celiac Disease: Symptoms & How It’s Treated
https://my.clevelandclinic.org/health/diseases/14240-celiac-disease
Most people whove been diagnosed and have stopped eating gluten have an excellent prognosis. Most of the damage done by celiac disease can be undone. […] If you go many years before being diagnosed or you dont 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. […] Complications of chronic malnutrition can include: Rickets in children or osteomalacia in adults. Osteopenia and osteoporosis. Permanent dental enamel defects. Nervous system effects (peripheral neuropathy), including tingling and numbness, muscle spasms and balance and coordination problems (ataxia). Growth and developmental delays in children, short stature. Attention and learning disabilities.
#25 Study Shows Slightly Increased Mortality in Celiac Disease | Celiac Disease FoundationBack to HomeBack to HomeAbout the DiseaseGluten-Free ResourcesResearch ResourcesAdvocacy and Public PolicyJoin the EffortSupport the FoundationShare on FacebookShare on
https://celiac.org/study-shows-slightly-increased-mortality-in-celiac-disease/
People with celiac disease have a small but significantly increased mortality rate. The finding comes from the largest study of its kind, which used long-term health records of celiac patients in Sweden between 1969 and 2017. […] A higher risk was seen in all causes of death combined. With causes separated, celiac patients also showed a slightly but significantly higher risk of dying from cardiovascular disease, cancer or respiratory diseases such as flu and pneumonia. […] Mortality risk affected all age groups but was most elevated among adults between 18 and 39 years of age. It was highest during the first year after diagnosis yet remained significant even after 10 years of following a gluten-free diet. […] Previous smaller studies found no effect on mortality, while a study of 30,000 patients found slightly higher mortality. However, this latest research used data from the largest number of deaths and allowed comparison of patients over decades of gluten-free diet management. It added weight to the finding of a UK study of 1,000 patients showing that mortality risk had not decreased over time. In the Swedish data, increased mortality rate was still seen among those who entered treatment from 2010 to 2017.
#26 Celiac disease: a comprehensive current review | BMC Medicine | Full Text
https://bmcmedicine.biomedcentral.com/articles/10.1186/s12916-019-1380-z
RCD can lead to complications such as ulcerative jejunoileitis, collagenous sprue, and intestinal lymphoma. […] RCD represents about 10% of all OACD cases and approximately 11.5% of total cases of CD. […] The mortality of patients with type 2 RCD is primarily due to the development of intestinal lymphoma, which appears to occur more often in male patients, although CD is more commonly detectable in female patients. […] It has been widely shown that a late diagnosis of CD (after the age of 50) and/or not following a strict GFD can lead to a higher mortality compared to that of the general population. […] The association between CD and cancers has been known for over 50years and a delayed diagnosis of CD exposes patients to an increased risk of developing neoplastic diseases. […] Small bowel adenocarcinoma is an extremely rare cancer in the general population but it is much more common in patients with CD.
#27 Celiac Disease (Sprue): Background, Pathophysiology, Etiology
https://emedicine.medscape.com/article/171805-guidelines
The prognosis for patients with correctly diagnosed and treated celiac disease is excellent. The prognosis for patients with celiac disease who are not responding to gluten withdrawal and corticosteroid treatment is generally poor. […] Although rarely lethal, celiac disease is a significant and often debilitating maldigestion and malabsorption syndrome affecting multiple organ systems. Patients with celiac disease are at an increased risk for complications, such as lymphomas and adenocarcinomas of the intestinal tract. […] Refractory celiac disease occurs in approximately 5% of patients despite strict adherence to a gliadin-free diet. Refractory celiac disease is characterized by symptoms of malabsorption, weight loss, diarrhea, abdominal distention, and anemia.
#28 Malignancies in Patients with Celiac Disease: Diagnostic Challenges and Molecular Advances
https://www.mdpi.com/2073-4425/14/2/376
The adherence to a gluten-free diet has shown an effective inhibition of EATL. […] The risk of small bowel adenocarcinoma development, even relatively low, should be carefully considered, being higher in CD patients compared to healthy individuals. […] Overall, in addition to following the gluten-free diet, all CD patients are given the widely accepted recommendations of a healthy lifestyle preventing cancer risks, such as high fiber consumption, physical activity, healthy body mass, and smoking cessation.
#29 Automated detection of celiac disease using Machine Learning Algorithms | Scientific Reports
https://www.nature.com/articles/s41598-022-07199-z
Celiac disease is a disorder of the immune system that mainly affects the small intestine but can also affect the skeletal system. […] The proposed innovative approach do not use complex learning algorithms, instead it find some artefacts in the endoscopies using kernels and use classified machine learning algorithms. […] The use of the proposed automated images processing acquired noninvasively by capsule endoscopy would be assistive in detecting the subtle presence of villous atrophy not evident by visual inspection. It may also be useful to assess the degree of improvement of celiac. Patients on a gluten-free diet, the main treatment method for stopping the autoimmune process and improving the state of the small intestinal villi. […] The conclusion made by the researchers at the end of the paper indicates that there is a possibility that in the future this diagnosis can be given by a computer, but still needs a broader analysis in this area, both on the algorithmic and safety side.
#30 Automated detection of celiac disease using Machine Learning Algorithms | Scientific Reports
https://www.nature.com/articles/s41598-022-07199-z
Currently, there is much interest in incorporating quantitative technology for video endoscopy image analysis in the design of programs for celiac disease diagnosis and treatment. Endoscopy with histology assessment is the main tool in the diagnostic algorithm for celiac disease, but it is invasive and the diagnosis requires several days. The serological test for antibodies to tissue transglutaminase might be helpful, but false negative and false positive results should be considered. The use of automated programs for images acquired noninvasively through capsule endoscopy would be assistive to detect the subtle presence of villous atrophy not evident by visual inspection. It may also be useful to assess the degree of improvement of celiac patients on a gluten-free diet, the main treatment method for stopping the autoimmune process and improving the state of the small intestinal villi.
#31 Rapid diagnosis of celiac disease based on plasma Raman spectroscopy combined with deep learning | Scientific Reports
https://www.nature.com/articles/s41598-024-64621-4
Celiac Disease (CD) is a primary malabsorption syndrome resulting from the interplay of genetic, immune, and dietary factors. […] Therefore, establishing a rapid and accurate diagnostic method is of paramount importance for achieving early detection of CD and reducing associated damages. […] Early detection of CD is crucial, as timely intervention and treatment can significantly improve patients’ quality of life and slow down disease progression. […] The DRSN model outperforms CNN, MCNN, and ResNet in accuracy, specificity, sensitivity, and precision. […] The proposed deep learning models, in conjunction with celiac disease Raman spectra data, advance technology in the Raman spectroscopy field and enrich diagnostic approaches for celiac disease. […] This study provides strong empirical support for combining Raman spectroscopy and deep learning models for celiac disease diagnosis. […] Ultimately, our research results indicate that DRSN has achieved significant success in the classification and diagnosis of celiac disease and healthy controls.