Clinical settings in which human leukocyte antigen typing is still useful in the diagnosis of celiac disease  

作　　者：Enrico Schirru Rossano Rossino Rita D Jores Mara Corpino Sandro Muntoni Francesco Cucca Mauro Congia 

机构地区：[1]University Service Center for Animal Facility(CeSASt),University of Cagliari,Monserrato 09042,Sardinia,Italy [2]Department of Medical Science and Public Health,University of Cagliari,Monserrato 09042,Sardegna,Italy [3]Department of Pediatrics,Clinic of Pediatric and Rare Diseases,Microcitemico Pediatric Hospital,A.Cao,ASL8,Cagliari 09121,Sardegna,Italy [4]Department Outpatient Clinic,ASL8 Outpatient Clinic,Quartu Sant’Elena 09045,Sardegna,Italy [5]Department of Biomedical Science,University of Cagliari,Monserrato 09042,Sardegna,Italy [6]Department of Biomedical Science,University of Sassari,Sassari 07100,Sardegna,Italy

出　　处：《World Journal of Gastroenterology》2025年第14期6-17,共12页世界胃肠病学杂志(英文)

基　　金：Supported by Fondazione di Sardegna,No.2020.2284.

摘　　要：Celiac disease(CD)is a systemic autoimmune disorder triggered by gluten ingestion ingenetically predisposed individuals.It is characterized by intestinal histological damage and the production of specific autoantibodies.The latest European Society for Paediatric Gastroenterology,Hepatology,and Nutrition(ESPGHAN)2020 guidelines have excluded human leukocyte antigen(HLA)genotyping from the no-biopsy diagnostic approach due to its weak positive predictive value,limited availability,and high cost in some countries.However,HLA genetic testing remains valuable in certain clinical contexts.This study provided practical indications for when to request and how to interpret HLA genotyping,emphasizing its continued relevance for CD diagnosis in specific cases.We also proposed a strategy for monitoring the risk of developing type 1 diabetes(T1D)in patients with CD,based on the risk stratification carried by different HLA genotypes.A retrospective analysis of 746 patients with CD and 627 controls was conducted at our hospital starting in2012,when HLA genotyping became mandatory for the diagnosis of CD.We identified key clinical scenarios where HLA testing remains useful.Several high risk HLA-DQ genotypes strongly associated with CD were highlighted,including HLA-DQ2.5/HLA-DQ2.2and HLA-DQ2.5/HLA-DQ2.5.Notably,while the HLA-DQ2.5/HLA-DQ2.2 genotype is linked to CD,it appears to confer protection against T1D.To support clinical practice,we presented a table clarifying commonly used HLA terminology,and another summarized the main clinical situations in which HLAgenotyping should still be considered.These findings underscore the dual role of HLA testing:Not only can it help rule out CD in selected cases,but it also identifies patients with CD at risk for T1D,guiding personalized monitoring strategies.

关 键 词：Human leukocyte antigens Celiac disease Type 1 diabetes GUIDELINES Anti tissue transglutaminase type 2 

分 类 号：R73[医药卫生—肿瘤]