Related Experiment Video

Updated: Mar 24, 2026

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
10:27

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis

Published on: December 15, 2011

25.1K

[Active search of celiac disease among first degree relatives of known celiac patients]

Marcela Bejares, Amaya Oyarzún, Yalda Lucero

    Revista Medica De Chile
    |March 2, 2016
    PubMed

    Insights

    Screening first-degree relatives (FDR) for celiac disease (CD) revealed a high serological prevalence, 15 times greater than the general population. Utilizing IgA/IgG-tTG tests and intestinal biopsies is crucial for accurate diagnosis and management.

    Area of Science:

    • Gastroenterology
    • Immunology
    • Genetics

    Background:

    • Active screening for celiac disease (CD) has expanded the understanding of its clinical presentations.
    • First-degree relatives (FDR) of individuals with CD represent a key risk group for developing the condition.

    Purpose of the Study:

    • To determine the frequency and clinical characteristics of celiac disease (CD) in first-degree relatives (FDR) of diagnosed celiac patients.
    • To evaluate the utility of serological markers and intestinal biopsies in identifying CD within this high-risk group.

    Main Methods:

    • A cohort of 113 FDR from 37 celiac disease patients underwent assessment, including clinical data collection and serological testing for Immunoglobulin A (IgA), anti-transglutaminase (tTG), and anti-endomisial (EMA) antibodies.
    • Individuals with positive serology were recommended for intestinal biopsies to confirm diagnosis.

    Main Results:

    • Of the 113 FDR assessed, 14 (12.4%) exhibited positive serological results for CD. None had IgA deficiency.
    • Measurement of IgA/IgG-tTG identified an additional case not detected by IgA-tTG alone. Two relatives were EMA positive.
    • Six of the 14 FDR with positive serology underwent intestinal biopsy, confirming active CD (Marsh ≥ 2) in two and diagnosing potential CD (Marsh 0/1) in four.

    Conclusions:

    • The serological prevalence of CD among FDR was significantly higher (15-fold) than in the general Chilean population, underscoring the importance of active screening.
    • Employing IgA/IgG-tTG testing can enhance the diagnostic yield in active CD surveillance programs.
    • Intestinal biopsies remain essential for differentiating between active classic CD and potential CD, guiding appropriate management strategies.
    Abstract

    More Related Videos

    Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry05:53

    Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

    Published on: June 21, 2018

    10.8K
    A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-1906:46

    A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-19

    Published on: July 5, 2022

    3.4K

    Related Concept Videos

    Pedigree Analysis01:35

    Pedigree Analysis

    Overview
    90.7K
    Other Disorders of Digestive System01:30

    Other Disorders of Digestive System

    The gastrointestinal tract is susceptible to various disorders. If the lower esophageal sphincter is damaged, stomach acid can flow back into the esophagus, causing irritation and inflammation of the lining. This condition is called gastroesophageal reflux disease (known as heartburn) and may cause chest pain and difficulty swallowing. In the stomach, prolonged use of nonsteroidal anti-inflammatory drugs like aspirin, chronic alcohol consumption, bacterial infections such as Helicobacter...
    1.7K
    Autoimmune Disorders01:29

    Autoimmune Disorders

    Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
    Concept and Mechanism of Autoimmune Diseases
    The immune...
    2.1K
    Peptic Ulcer Disease I: Introduction01:30

    Peptic Ulcer Disease I: Introduction

    Peptic Ulcer Disease (PUD) is characterized by mucosal excavation in the esophagus, stomach, pylorus, or duodenum. It can manifest as acute or chronic based on the extent and duration of mucosal involvement.
    An acute ulcer, marked by superficial erosion and minimal inflammation, swiftly resolves upon identifying and addressing the underlying cause. In contrast, a chronic ulcer persists, potentially eroding through the muscular wall and forming fibrous tissue.
    Peptic ulcers can also be...
    1.0K
    Glucose Transporters01:27

    Glucose Transporters

    Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
    Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
    28.2K
    Inborn Errors of Metabolism01:20

    Inborn Errors of Metabolism

    Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
    1.0K