Families with multiple cases of gluten-sensitive enteropathy

Area of Science:

• Gastroenterology
• Immunology
• Genetics

Background:

• Early detection of oligosymptomatic gluten-sensitive enteropathy (GSE) is crucial for preventing severe complications like malignancy.
• First-degree relatives of diagnosed GSE patients have a significantly higher risk of developing the condition.
• Non-invasive screening methods are valuable for identifying at-risk family members.

Purpose of the Study:

• To evaluate the frequency and clinical significance of multiple GSE occurrences within families.
• To assess the effectiveness of antiendomysium antibody (EmA)-based screening in detecting undiagnosed GSE cases among relatives.
• To determine the prevalence and presentation of GSE in family members of known patients.

Main Methods:

• A cohort of 997 family members from 396 GSE patients was screened.
• Screening involved antiendomysium antibody (EmA) testing and assessment of jejunal villous atrophy.
• GSE diagnosis was confirmed via biopsy, with some cases pending further observation or refused biopsy.

Main Results:

• GSE was identified in 8.5% of relatives (80/943), with higher prevalence in siblings (13.8%) and offspring (12.0%) compared to parents (4.2%).
• Multiple affected members were found in 13.9% of families (two members), 2.5% (three members), and in single families with four or six affected members.
• Relatives frequently presented with silent or atypical GSE forms, and 15 families had members with and without dermatitis herpetiformis.

Conclusions:

• EmA-assisted family screening is effective in detecting a clinically significant number of additional GSE patients.
• This screening approach facilitates early diagnosis, potentially preventing long-term complications.
• The high prevalence in relatives underscores the importance of familial screening for GSE.