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An algorithm for family screening for coeliac disease.

Jocelyn-S Fraser¹, Alistair-L King, H-Julia Ellis

¹Division of Nutritional Sciences, King's College London, United Kingdom.

World Journal of Gastroenterology

|January 5, 2007

Summary

First-degree relatives of individuals with coeliac disease (CD) have a 5%-6% prevalence of undiagnosed CD. Screening these relatives is recommended to identify the condition early.

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Area of Science:

Gastroenterology
Immunology
Genetics

Background:

Coeliac disease (CD) is an autoimmune disorder triggered by gluten ingestion.
Genetic predisposition, particularly HLA-DQ2, plays a significant role in CD development.
Early diagnosis and management of CD are crucial to prevent long-term complications.

Purpose of the Study:

To determine the prevalence of undiagnosed coeliac disease (CD) among first-degree relatives of patients diagnosed with CD.
To evaluate the effectiveness of a specific serological screening algorithm for identifying at-risk individuals.

Main Methods:

A cohort of 914 first-degree relatives of probands with CD was recruited.
Serological screening included IgA and IgG tissue transglutaminase (tTG) antibodies, IgA endomysial (EMA) antibodies, and IgG1 EMA.
HLA typing was performed on individuals with positive serological results, and small intestinal biopsies were obtained where indicated.

Main Results:

The study identified a 5%-6% prevalence of undiagnosed CD in the first-degree relatives screened.
The serological screening algorithm proved effective in detecting cases of undiagnosed CD.
HLA-DQ2 was found to be highly prevalent in the coeliac population within the study group.

Conclusions:

First-degree relatives of individuals with coeliac disease represent a high-risk group for undiagnosed CD.
Routine screening of first-degree relatives using the described serological algorithm is warranted.
Early identification and intervention can potentially improve outcomes for individuals with CD.