Systematic review on the diagnostic evaluation of pediatric evans syndrome
Notice bibliographique
Résumé
Abstract Background: Evans syndrome (ES) is a complex disorder of multi-lineage autoimmune cytopenias and is often a chronic, relapsing disease with significant morbidity and mortality. Children with ES have a high rate of inborn errors of immunity, autoimmune lymphoproliferative syndrome (ALPS), and/or rheumatologic disease. It is crucial to identify underlying etiologies to guide appropriate management, but no national guidelines on the recommended diagnostic evaluation for pediatric patients exist. Recognizing the breadth of underlying etiologies and the current landscape of the evaluation of ES would inform guidance on the recommended diagnostic workup and future research recommendations. Aims: To evaluate the current evidence to guide the diagnostic evaluation of children with Evans syndrome. Methods: In conjunction with the ITP Consortium of North America (ICON), a systematic literature review was conducted using MEDLINE®, EMBASE, Cochrane, CINAHL, PsycINFO, and Scopus libraries from 1980-2024. Studies were included if they involved patients with ES or multi-lineage cytopenias and reported on the diagnostic evaluation. Studies focused on single lineage cytopenias, post-transplant or pregnancy related cytopenias, treatment or outcomes, case reports, case series with <3 patients, and systematic reviews were excluded. Joanna Briggs Institute critical appraisal tools were used to assess risk of bias. Results: After removing duplicates, 2772 studies were screened by title and abstract, and 103 studies underwent full-text review. Twenty-six studies met inclusion criteria, including 5 prospective and 21 retrospective cohort studies (one case series). Ten were multi-center; the remaining were single center studies. The geographic distribution was diverse, including North America (n=10), Europe (n=10), Central and South America (n=2), Asia (n=3), Australia (n=1) and the Middle East (n=1). In total, there were 920 patients (52.9% male); mean age was 11.4 years (n=23 studies reporting). Most studies (73%) included pediatric patients only, with the remainder including less than one third of pediatric patients (or unknown). A definition for ES was provided in 24 (92.3%) studies. Of these, 13 (54%) included immune thrombocytopenia (ITP), autoimmune hemolytic anemia (AIHA), and/or autoimmune neutropenia (AIN), while 11 (45.8%) excluded AIN. Definitions for individual cytopenias were reported for ITP in 12 (46.2%), AIHA in 15 (57.7%), and AIN in 11 (42.3%) studies. Sixteen studies (61.5%) reported rates of primary ES, while 18 studies (69.2%) reported rates of secondary ES. The most common secondary ES etiologies evaluated included ALPS (n=11 studies), rheumatologic/systemic autoimmune disease (n=11), CVID (n=10), infection (n=9), monogenic disorders of immunity (n=7), and malignancy (n=6). Family history was reported in 5 studies. All studies reported some clinical features of ES, including lymphoproliferation (n=14 studies), recurrent or refractory cytopenias (n=10 each), enteropathy (n=10), frequent/recurrent infections (n=9), bleeding (n=9), prior autoimmune diseases (n=9), and chronic cytopenias (n=6). All studies reported diagnostic evaluations, including hemoglobin (n=12), platelet (n=11), and absolute neutrophil counts (ANC, n=8). Hemolytic anemia workup included direct antiglobulin test (n=19), lactate dehydrogenase (n=10), indirect bilirubin (n=8), and haptoglobin (n=7). Anti-neutrophil and anti-platelet antibodies were each reported in 7 studies. Testing for underlying etiologies included quantitative immunoglobulins (n=17), anti-nuclear antibodies (n=17), lymphocyte subsets (n=11), double negative T cells (n=10), anti-phospholipid antibodies (n=9), bone marrow studies (n=9), viral testing (n=9), vaccination response (n=2), and vitamin B12 (n=2). Three studies described imaging findings. Genetic testing was described in 10 studies, including single gene (n=3), panel (n=6), exome sequencing (n=2), and unknown methods (n=3). Discussion/Conclusion: Pediatric ES is rare, with limited data from mostly retrospective studies using variable definitions of ES. Rates of primary and secondary ES, underlying etiologies, and clinical characteristics of patients with ES are inconsistently reported. Although aspects of the diagnostic evaluation were reported in all studies, the data was heterogenous and limited. Standardized criteria and diagnostic protocols are needed to improve evaluation and management of pediatric ES.
Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.
Comment cette classification a été obtenuedéplier
Prédiction machine sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Le volet Gemma est une étiquette directe du modèle pour chaque travail de la base, lue sur la notice réduite au titre. Le volet Codex est un classifieur appris des 10 348 étiquettes directes de Codex et calibré sur les taux pondérés de l'échantillon; les champs sans appui suffisant ne portent aucun appel Codex. Le mode candidate est l'union des deux volets; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont pas des étiquettes humaines.
Scores du classifieur distillé par catégorie (deux têtes)
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,014 | 0,079 |
| Méta-épidémiologie (sens strict) | 0,002 | 0,001 |
| Méta-épidémiologie (sens large) | 0,008 | 0,007 |
| Bibliométrie | 0,017 | 0,017 |
| Études des sciences et des technologies | 0,001 | 0,001 |
| Communication savante | 0,003 | 0,003 |
| Science ouverte | 0,003 | 0,002 |
| Intégrité de la recherche | 0,002 | 0,001 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,007 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule source (Gemma direct ou Codex distillé), pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».