Physicians Caring for Celiac Patients do not Routinely Recommend Screening of First-Degree Family Members

Abhik Roy1, Colin Smith1, Constantine Daskalakis2

  • 1Department of Medicine, Thomas Jefferson University; 132 South 10th Street, Suite 480, Philadelphia, PA 19107, the United States.

Journal of Gastroenterology and Hepatology Research
|February 7, 2017
PubMed

Insights

Physicians often fail to recommend celiac disease (CD) screening for relatives of diagnosed patients. Increased physician recommendations for first-degree relative screening could significantly improve CD diagnosis rates in high-risk individuals.

Area of Science:

  • Gastroenterology
  • Genetics
  • Public Health

Background:

  • Screening first-degree relatives of celiac disease (CD) patients is crucial for early diagnosis in a high-risk population.
  • Physician recommendations play a key role in initiating family screening for CD.

Purpose of the Study:

  • To determine the frequency of physician-issued recommendations for first-degree relative screening among CD patients.
  • To assess the impact of such recommendations on subsequent CD diagnosis in relatives.

Main Methods:

  • A validated 12-question survey was administered to CD patients at a university gastroenterology practice and online to members of a celiac organization.
  • Data from 677 NFCA and 82 University respondents were analyzed using univariate analysis.

Main Results:

  • Only 44% of NFCA members and 78% of University patients received a physician recommendation for family screening.
  • Recommendations led to family discussion, screening, and diagnosis in a significant proportion of cases (18-27% diagnosis rate).

Conclusions:

  • Physician compliance with recommending first-degree relative screening for CD is often inadequate.
  • Enhancing physician recommendations for screening can significantly increase CD diagnoses in at-risk family members.
Abstract

Related Concept Videos

Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
5.8K
Serum Laboratory Studies, Stool Test, Breath Test01:30

Serum Laboratory Studies, Stool Test, Breath Test

Gastrointestinal (GI) diagnostic studies are pivotal in confirming, ruling out, diagnosing, or staging various diseases, including cancers. Following diagnosis, allocating time for discussions with the patient and providing informational resources is crucial. Diagnostic assessments of the GI tract often occur in outpatient settings like endoscopy suites or GI labs. Preparation for these tests may include dietary restrictions, fasting, liquid bowel preparations, laxatives, enemas, and the...
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:
27.8K
Pedigree Analysis01:35

Pedigree Analysis

Overview
90.3K