PMID- 24300305
OWN - NLM
STAT- MEDLINE
DCOM- 20141001
LR  - 20211203
IS  - 1473-5687 (Electronic)
IS  - 0954-691X (Linking)
VI  - 26
IP  - 3
DP  - 2014 Mar
TI  - Coeliac disease screening in first-degree relatives on the basis of biopsy and 
      genetic risk.
PG  - 263-7
LID - 10.1097/MEG.0000000000000020 [doi]
AB  - BACKGROUND: Serological markers of coeliac disease (CD) lack diagnostic value to 
      identify mild histopathological lesions mainly in adults at risk of CD. AIMS: The 
      aim of this study was to evaluate the usefulness of human leukocyte antigen 
      (HLA)-DQ2/8 genotyping, followed by duodenal biopsy for the detection of CD in 
      adult first-degree relatives (FDRs) of patients with CD. MATERIALS AND METHODS: 
      Ninety-two adult DQ2/8 positive FDRs were consecutively included. A duodenal 
      biopsy was offered irrespective of the serology result or associated symptoms. 
      The clinical features, associated autoimmune diseases and biochemical parameters 
      were recorded. RESULTS: Sixty-seven FDRs (mean age 34 years) underwent a duodenal 
      biopsy. Histopathological alterations were found in 32 (48%) and showed the 
      following stages: 12 Marsh I (18%), one Marsh II (1.5%), four Marsh IIIA (6%), 
      five Marsh IIIB (7.5%) and 10 Marsh IIIC (15%). Positive serological markers were 
      present in 17/67 (25%), with only one showing Marsh I and the remainder 
      presenting some degree of duodenal atrophy (Marsh III). In addition, 33/67 (54%) 
      had gastrointestinal symptoms, with dyspepsia being the most prevalent. The 
      distribution of symptoms, anaemia and autoimmune disease was independent of the 
      duodenal histopathological stage. Serology-based screening would diagnose 50% of 
      the cases showing any degree of CD spectrum and miss 6% of the cases with mucosal 
      atrophy. CONCLUSION: Adult FDRs of patients with CD can benefit from a screening 
      strategy on the basis of HLA-DQ genotyping, followed by a duodenal biopsy. 
      Gastrointestinal symptoms and lymphocytic enteritis are common findings that may 
      benefit from a gluten-free diet.
FAU - Vaquero, Luis
AU  - Vaquero L
AD  - aGastroenterology Unit bPathology Department cPaediatric Department, University 
      Hospital of Leon, Altos de Nava s/n dInstitute of Molecular Biology (INBIOMIC) 
      eMicrobiology Department fInstitute of Biomedicine (IBIOMED), University of Leon, 
      Leon, Spain.
FAU - Caminero, Alberto
AU  - Caminero A
FAU - Nunez, Alejandro
AU  - Nunez A
FAU - Hernando, Mercedes
AU  - Hernando M
FAU - Iglesias, Cristina
AU  - Iglesias C
FAU - Casqueiro, Javier
AU  - Casqueiro J
FAU - Vivas, Santiago
AU  - Vivas S
LA  - eng
PT  - Evaluation Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Gastroenterol Hepatol
JT  - European journal of gastroenterology & hepatology
JID - 9000874
RN  - 0 (Autoantibodies)
RN  - 0 (Biomarkers)
RN  - 0 (HLA-DQ Antigens)
RN  - 0 (HLA-DQ2 antigen)
RN  - 0 (HLA-DQ8 antigen)
RN  - EC 2.3.2.13 (Protein Glutamine gamma Glutamyltransferase 2)
RN  - EC 2.3.2.13 (Transglutaminases)
RN  - EC 3.6.1.- (GTP-Binding Proteins)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Autoantibodies/blood
MH  - Biomarkers/blood
MH  - Biopsy
MH  - Celiac Disease/complications/*diagnosis/genetics
MH  - Duodenum/pathology
MH  - Dyspepsia/etiology
MH  - Female
MH  - GTP-Binding Proteins/immunology
MH  - Genetic Predisposition to Disease
MH  - HLA-DQ Antigens/genetics
MH  - Histocompatibility Testing
MH  - Humans
MH  - Male
MH  - Mass Screening/methods
MH  - Middle Aged
MH  - Protein Glutamine gamma Glutamyltransferase 2
MH  - Severity of Illness Index
MH  - Transglutaminases/immunology
MH  - Young Adult
EDAT- 2013/12/05 06:00
MHDA- 2014/10/02 06:00
CRDT- 2013/12/05 06:00
PHST- 2013/12/05 06:00 [entrez]
PHST- 2013/12/05 06:00 [pubmed]
PHST- 2014/10/02 06:00 [medline]
AID - 10.1097/MEG.0000000000000020 [doi]
PST - ppublish
SO  - Eur J Gastroenterol Hepatol. 2014 Mar;26(3):263-7. doi: 
      10.1097/MEG.0000000000000020.