Raras
Buscar doenças, sintomas, genes...
NÃO RARA NA EUROPA: Doença celíaca
ORPHA:555CID-10 · K90.0DOENÇA RARA

Epilepsia é um grupo de doenças neurológicas não transmissíveis caracterizadas por uma predisposição a crises epilépticas recorrentes e não provocadas. Uma crise epiléptica é uma descarga súbita e anormal de atividade elétrica no cérebro, que pode provocar sintomas variados, desde lapsos breves de consciência até convulsões prolongadas. Esses episódios podem resultar em lesões físicas, tanto diretamente quanto por acidentes. O diagnóstico de epilepsia geralmente requer ao menos duas crises não provocadas com intervalo superior a 24 horas, embora, em alguns casos, possa ser estabelecido após um único episódio se houver evidências clínicas de alto risco de recorrência. Crises isoladas, sem risco de recorrência ou provocadas por causas identificáveis, não configuram epilepsia.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Doença autoimune desencadeada pelo glúten, afetando o intestino delgado. Causa má absorção de nutrientes, levando a sintomas variados como diarreia, fadiga e anemia.

Publicações científicas
3 artigos
Último publicado: 2017 Jul-Aug
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: K90.0
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa11
Total histórico3PubMed
Últimos 10 anos19publicações
Pico20194 papers
Linha do tempo
20202015Hoje · 2026📈 2019Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — NÃO RARA NA EUROPA: Doença celíaca

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

🥈Melhor nível de evidência: Observacional
Timeline de publicações
3 papers (10 anos)
#1

The gut-lung axis in celiac disease: a narrative review of pulmonary manifestations and pathogenic mechanisms.

Gastroenterology and hepatology from bed to bench2025

This narrative review synthesizes current evidence on the association between Celiac disease (CD) and pulmonary disorders, explores underlying mechanisms, and highlights clinical implications and future research directions. CD is a chronic autoimmune enteropathy triggered by gluten ingestion in genetically predisposed individuals. Although it primarily affects the small intestine, emerging evidence implicates extraintestinal involvement, particularly of the respiratory system, suggesting a potential gut-lung axis. This narrative review was conducted using PubMed, Scopus, and Web of Science, covering literature published in English up to October 2025. Search terms combined 'celiac disease' OR 'coeliac disease' with ('lung disease' OR 'pulmonary' OR 'respiratory tract' OR 'asthma' OR 'bronchiectasis' OR 'COPD' OR 'interstitial lung disease' OR 'pulmonary hemosiderosis'). Inclusion criteria were peer-reviewed human studies reporting pulmonary manifestations in celiac disease. Exclusion criteria included non-English language, in vitro or animal studies, abstracts without full text, and insufficient clinical or mechanistic data. This was not a systematic review, and therefore no PRISMA flow diagram was generated." Large-scale registry studies in Scandinavia and case-based evidence across Europe and Asia support a spectrum of pulmonary manifestations in celiac disease, ranging from asthma and chronic cough to rare but life-threatening idiopathic pulmonary hemosiderosis. Asthma and chronic cough were the most commonly observed associations, with population-based studies reporting an elevated risk. Case reports and small cohorts described co-occurrence with bronchiectasis and interstitial lung disease, while rare cases confirmed links to idiopathic pulmonary hemosiderosis (Lane-Hamilton syndrome). Proposed mechanisms include systemic immune activation, increased intestinal and pulmonary permeability, micronutrient deficiencies, IgA deficiency, and chronic inflammation. Notably, several studies reported symptom improvement or resolution following a gluten-free diet (GFD). Pulmonary manifestations of CD, though relatively uncommon, are clinically significant and often reversible with dietary intervention. Greater awareness, early recognition, and mechanistic research are essential to optimize patient outcomes.

#2

Risk of Cancer Diagnosis in Patients With Eosinophilic Esophagitis Using a Nationwide Swedish Population Cohort.

United European gastroenterology journal2024 Dec

Eosinophilic esophagitis (EoE) is a chronic, inflammatory disease of the esophagus. Chronic inflammation has been linked to cancer development. We aimed to study the potential association between EoE and later cancer diagnosis. In this nationwide population-based cohort study, we identified 1580 individuals with EoE diagnosed between 1990-2017 through Sweden's 28 pathology departments. Up to five general population reference individuals were matched on age and sex (n = 7533). A Cox regression analysis estimated adjusted hazard ratios (aHRs) for cancer up until December 31, 2020. To reduce potential intrafamilial confounding, we also compared EoE individuals with their unaffected siblings. During a median follow-up of 7 years, 47 individuals with EoE (3.9/1000 person-years) developed cancer versus 183 (3.2/1000 person-years) reference individuals. This corresponded to a non-significant aHR of 1.11 (95% CI = 0.80-1.53). Incidence rates were independent of budesonide and proton-pump inhibitor use. Individuals with EoE however did have an increased risk of esophageal cancer where two EoE versus one reference individual were diagnosed (aHR = 25.20; 95% CI = 2.28-278.80), and also Barrett's esophagus risk was also increased in EoE (HR = 18.18; 95% CI = 6.75-48.95). Non-esophageal gastrointestinal (GI) cancer occurred in 11 EoE versus 24 reference individuals: aHR = 2.03 (95% CI = 0.99-4.18). We found no increased risk of cancers from the skin (EoE n = 10), lung (n = 0), breast (n = 4), or blood (n = 0). Sibling analyses supported these findings. We did not find any overall association between EoE and cancer development. EoE was associated with esophageal cancer, but this was very rare with wide confidence interval and few cases therefore we urge caution with generalization of these findings.

#3

Increased risk of gastric cancer in relation with pernicious anaemia in patients with primary antibody deficiency: A nationwide case control study.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver2024 Oct

We aimed to assess gastrointestinal cancers risks in a large cohort of individuals with primary antibody deficiency (PAD) and their association with risk of autoimmune and inflammatory gastrointestinal diseases. Investigating a French national database of inpatient admissions between 2010 and 2018, we identified 12,748 patients with PAD and 38,244 control non-exposed individuals. We performed multiple exposed-non-exposed studies using conditional logistic regression. In comparison with non-exposed patients, PAD patients had increased risk of in situ gastric carcinoma (Odds Ratio (OR) =10.5 [95 % CI 2.2; 50.5]), malignant gastric tumor (OR=3.2 [95 % CI 2.2; 4.4]) and colorectal cancer (OR=1.2 [95 % CI 1; 1.5]). PAD patients had also increased risk of pernicious anaemia (OR=8 |95 % CI 5.6; 11.5]), Crohn's disease (OR= 4.4 [95 % CI 3.5; 5.6]), ulcerative colitis (OR=2.9 [95 % CI 2.4; 3.6]) and coeliac disease (OR=13.3 [95 % CI 9.1; 19.5]). Within patients with gastric cancer, those with PAD had increased risk of pernicious anaemia (OR=8.4 [95 % CI 1.5; 215]; p = 0.01) but not of H. pylori infection. Risk of gastric cancer is particularly high in PAD patients and notably risk of in situ gastric carcinoma in association with pernicious anaemia. It supports indication of early endoscopic screening in these patients.

#4

Updates on the diagnosis and management of cryptogenic multifocal ulcerative stenosing enteropathy (CMUSE) and non-steroidal enteropathy.

Best practice & research. Clinical gastroenterology2023

Crohn's disease and coeliac disease are well-known to induce ulcerations in the small-bowel. However, there is a group of very rare chronic ulcerative conditions of the small intestine that has emerged from the intestinal black box nearly 70 years ago, and that has gained interest with the advent of small-bowel capsule endoscopy and device-assisted enteroscopy. These distinct ulcerative enteropathies have come to our attention, and continue to reveal their aetiology and treatment options. Two distinct entities, called cryptogenic multifocal ulcerative stenosing enteritis/enteropathy (CMUSE) and chronic nonspecific multiple ulcers of the small intestine (CNSU) are gaining more clinical attention. CMUSE was first reported in Europe, whereas CNSU was exclusively diagnosed in Japanese patients. With the identification of susceptibility genes impacting prostaglandin metabolism, CMUSE and CNSU have become two distinct pathologies within the group of prostaglandin-associated enteropathies, to be differentiated from medication-induced enteropathies, especially non-steroidal anti-inflammatory drugs (NSAID)-induced enteropathy with similar intestinal ulcerations due to interference with prostaglandin metabolism. The current review provides an historical overview of CMUSE and CNSU publications, in addition to the currently available diagnostic and treatment options, and how to differentiate these rare enteropathies from NSAID-induced enteropathy.

#5

Current guidelines for the management of celiac disease: A systematic review with comparative analysis.

World journal of gastroenterology2022 Jan 07

Wheat and other gluten-containing grains are widely consumed, providing approximately 50% of the caloric intake in both industrialised and developing countries. The widespread diffusion of gluten-containing diets has rapidly led to a sharp increase in celiac disease prevalence. This condition was thought to be very rare outside Europe and relatively ignored by health professionals and the global media. However, in recent years, the discovery of important diagnostic and pathogenic milestones has led to the emergence of celiac disease (CD) from obscurity to global prominence. These modifications have prompted experts worldwide to identify effective strategies for the diagnosis and follow-up of CD. Different scientific societies, mainly from Europe and America, have proposed guidelines based on CD's most recent evidence. To identify the most recent scientific guidelines on CD, aiming to find and critically analyse the main differences. We performed a database search on PubMed selecting papers published between January 2010 and January 2021 in the English language. PubMed was lastly accessed on 1 March 2021. We distinguished guidelines from 7 different scientific societies whose reputation is worldwide recognized and representative of the clinical practice in different geographical regions. Differences were noted in the possibility of a no-biopsy diagnosis, HLA testing, follow-up protocols, and procedures. We found a relatively high concordance between the guidelines for CD. Important modifications have occurred in the last years, especially about the possibility of a no-biopsy diagnosis in children. Other modifications are expected in the next future and will probably involve the extension of the non-invasive diagnosis to the adult population and the follow-up modalities.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 19

2025

The gut-lung axis in celiac disease: a narrative review of pulmonary manifestations and pathogenic mechanisms.

Gastroenterology and hepatology from bed to bench
2024

Risk of Cancer Diagnosis in Patients With Eosinophilic Esophagitis Using a Nationwide Swedish Population Cohort.

United European gastroenterology journal
2024

Increased risk of gastric cancer in relation with pernicious anaemia in patients with primary antibody deficiency: A nationwide case control study.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
2023

Updates on the diagnosis and management of cryptogenic multifocal ulcerative stenosing enteropathy (CMUSE) and non-steroidal enteropathy.

Best practice & research. Clinical gastroenterology
2022

Current guidelines for the management of celiac disease: A systematic review with comparative analysis.

World journal of gastroenterology
2021

The nature of genetic and environmental susceptibility to multiple sclerosis.

PloS one
2022

Oncogenetic landscape of lymphomagenesis in coeliac disease.

Gut
2021

Rare immunofluorescence patterns of autoantibodies on HEp-2 cells defined by ICAP identify different autoimmune diseases in the absence of associated specificities: a Spanish multicentre study.

Rheumatology (Oxford, England)
2020

Small bowel adenocarcinoma: Results from a nationwide prospective ARCAD-NADEGE cohort study of 347 patients.

International journal of cancer
2019

Safety and efficacy of AMG 714 in patients with type 2 refractory coeliac disease: a phase 2a, randomised, double-blind, placebo-controlled, parallel-group study.

The lancet. Gastroenterology & hepatology
2019

EFSUMB Gastrointestinal Ultrasound (GIUS) Task Force Group: Celiac sprue and other rare gastrointestinal diseases ultrasound features.

Medical ultrasonography
2019

A High Prevalence of Gastrointestinal Manifestations in Common Variable Immunodeficiency.

The American journal of gastroenterology
2019

Changing Epidemiology of Liver Involvement in Children With Celiac Disease.

Journal of pediatric gastroenterology and nutrition
2018

Severe intestinal malabsorption associated with ACE inhibitor or angiotensin receptor blocker treatment. An observational cohort study in Germany and Italy.

Pharmacoepidemiology and drug safety
2018

Gluten sensitivities and the allergist: Threshing the grain from the husks.

Allergy
2016

Cross-sectional study of coeliac autoimmunity in a population of Vietnamese children.

BMJ open
2016

Ruptured Pancreaticoduodenal Artery Aneurysms Associated with Celiac Stenosis Caused by the Median Arcuate Ligament: A Poorly Known Etiology of Acute Abdominal Pain.

European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery
2015

Genomic and immunohistochemical profiles of enteropathy-associated T-cell lymphoma in Japan.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
2015

Clinical and diagnostic aspects of gluten related disorders.

World journal of clinical cases

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para NÃO RARA NA EUROPA: Doença celíaca.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para NÃO RARA NA EUROPA: Doença celíaca

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

Participe da discussão

Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.

Fazer login

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ainda não achamos doenças com sintomas parecidos o suficiente.

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. The gut-lung axis in celiac disease: a narrative review of pulmonary manifestations and pathogenic mechanisms.
    Gastroenterology and hepatology from bed to bench· 2025· PMID 41777910mais citado
  2. Risk of Cancer Diagnosis in Patients With Eosinophilic Esophagitis Using a Nationwide Swedish Population Cohort.
    United European gastroenterology journal· 2024· PMID 39565026mais citado
  3. Increased risk of gastric cancer in relation with pernicious anaemia in patients with primary antibody deficiency: A nationwide case control study.
    Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver· 2024· PMID 38853087mais citado
  4. Updates on the diagnosis and management of cryptogenic multifocal ulcerative stenosing enteropathy (CMUSE) and non-steroidal enteropathy.
    Best practice & research. Clinical gastroenterology· 2023· PMID 37652648mais citado
  5. Current guidelines for the management of celiac disease: A systematic review with comparative analysis.
    World journal of gastroenterology· 2022· PMID 35125825mais citado
  6. Magnetic resonance enterography in pediatric celiac disease.
    J Pediatr (Rio J)· 2017· PMID 28153484recente
  7. Psychopathology, quality of life, and related factors in children with celiac disease.
    J Pediatr (Rio J)· 2017· PMID 27886806recente
  8. Translation, cultural adaptation, and validation of the celiac disease DUX (CDDUX).
    J Pediatr (Rio J)· 2015· PMID 26054773recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:555(Orphanet)
  2. MONDO:0005130(MONDO)
  3. Busca completa no PubMed(PubMed)
  4. Artigo Wikipedia(Wikipedia)
  5. Q11088(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

NÃO RARA NA EUROPA: Doença celíaca
Compêndio · Raras BR

NÃO RARA NA EUROPA: Doença celíaca

ORPHA:555 · MONDO:0005130
CID-10
K90.0 · Doença celíaca
MedGen
UMLS
C0007570
Repurposing
2 candidatos
coumarinvitamin K antagonist
cyanocobalaminmethylmalonyl CoA mutase stimulant|vitamin B
Wikidata
Wikipedia
Papers 10a
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades