Related Experiment Video

Updated: Aug 27, 2025

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

24.6K

Characteristics of Pediatric Patients With Celiac Disease Identified Due to an Affected First-Degree Family Member

Michelle J Gould1, Jenna Dowhaniuk2,3, Jorge Arredondo4

  • 1From the Department of Paediatrics, University of Toronto, Toronto, ON, Canada.

Journal of Pediatric Gastroenterology and Nutrition
|September 26, 2022
PubMed

Insights

Screening first-degree relatives for celiac disease (an autoimmune disorder) is crucial. Even asymptomatic relatives can have severe disease, supporting current screening recommendations.

Area of Science:

  • Gastroenterology and Immunology
  • Pediatric Health
  • Genetics and Hereditary Diseases

Background:

  • Celiac disease incidence is elevated in first-degree relatives.
  • Clinical characteristics of this high-risk group remain underdescribed.
  • Current screening guidelines recommend testing relatives regardless of symptoms.

Purpose of the Study:

  • To describe the clinical characteristics of pediatric celiac disease patients identified through family screening.
  • To compare disease severity in symptomatic versus asymptomatic relatives diagnosed with celiac disease.

Main Methods:

  • Retrospective review of patients diagnosed with celiac disease at a tertiary pediatric clinic.
  • Identification of 49 patients screened due to an affected first-degree relative.
  • Analysis of clinical presentation and histological findings.

Main Results:

  • 51% of relatives screened were asymptomatic at diagnosis.
  • Asymptomatic patients exhibited disease histology as severe as symptomatic patients.
  • No significant difference in histological severity was observed between symptomatic and asymptomatic screened relatives.

Conclusions:

  • Screening first-degree relatives for celiac disease is essential, irrespective of symptoms.
  • Asymptomatic relatives can present with significant histological disease burden.
  • Findings reinforce the importance of universal screening in pediatric celiac disease families.

More Related Videos

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

2.9K
High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia05:32

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia

Published on: January 19, 2022

4.5K

Related Concept Videos

Pedigree Analysis01:35

Pedigree Analysis

Overview
84.8K
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
344
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...
225
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:
24.0K
Inflammatory Bowel Disease III: Diagnostic Studies and Management I-Nutritional Therapy01:30

Inflammatory Bowel Disease III: Diagnostic Studies and Management I-Nutritional Therapy

Various diagnostic tests are employed in the diagnostic process for Inflammatory Bowel Disease (IBD), particularly to differentiate between Crohn's disease and ulcerative colitis.
Diagnostic studies
A colonoscopy is the definitive screening test, distinguishing ulcerative colitis from other colon diseases with similar symptoms. During a colonoscopy test, inflamed mucosa with exudate ulcerations can be observed, and biopsies are taken to determine the histologic characteristics of the...
397
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...
268