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Celiac disease in first degree relatives of celiac children
Andreia Oliveira1, Eunice Trindade, Marta Tavares
1Unit of Paediatric Gastroenterology, São João Hospital, Porto, Portugal. dra.andreiaoliveira@gmail.com
Insights
Screening first-degree relatives of celiac patients revealed a 2.6% prevalence of celiac disease. Early diagnosis in this high-risk group is vital for preventing complications like nutritional deficiencies and cancer.
Area of Science:
- Gastroenterology
- Genetics
- Immunology
Background:
- First-degree relatives of celiac disease patients are a high-risk group.
- Screening these relatives is crucial for preventing long-term complications of celiac disease.
Purpose of the Study:
- To determine the prevalence of celiac disease in first-degree relatives of children diagnosed with gluten intolerance.
- To screen for celiac disease using a rapid IgA antibody test for human recombinant tissue transglutaminase (IgA-TTG).
Main Methods:
- A prospective study screened 268 first-degree relatives (mothers, fathers, siblings) of 163 celiac children.
- A capillary immunoassay rapid test detected IgA-TTG antibodies.
- Positive screening results prompted further investigation.
Main Results:
- The screening test was positive in 12 relatives (4.5%).
- Celiac disease was diagnosed in 7 relatives (2.6%), including 5 mothers and 2 fathers.
- Diagnosed individuals had mild symptoms, high IgA-TTG titers, and histological confirmation, and are now on a gluten-free diet.
Conclusions:
- The prevalence of celiac disease in first-degree relatives (2.6%) is significantly higher (5 times) than in the general population.
- Despite varying recommendations, early diagnosis in high-risk groups is essential for preventing complications.
- Early detection aids in preventing nutritional deficiencies and potential cancers associated with celiac disease.
Context:
The first degree relatives of celiac patients represent a high risk group for the development of this disorder, so their screening may be crucial in the prevention of long-term complications.
Objective:
In order to determine the prevalence of celiac disease in a group of first degree relatives of children with proven gluten intolerance, we conducted a prospective study that consisted in the screening of celiac disease, using a capillary immunoassay rapid test that allows a qualitative detection of IgA antibody to human recombinant tissue transglutaminase (IgA-TTG).
Methods:
When the screening test was positive subjects were advised to proceed with further investigation. The screening test was performed in 268 first degree relatives (143 mothers, 89 fathers, 36 siblings) corresponding to 163 children with celiac disease.
Results:
Screening test was positive in 12 relatives (4.5%), of which 1 refused to continue the investigation. In the remaining 11 relatives celiac disease was diagnosed in 7 cases (2.6%, 5 mothers, 2 fathers) who had a median age of 39 years (27-56 years), mild gastrointestinal symptoms, high titre of IgA-TTG and histology abnormalities confirming the diagnosis. All these patients are currently on a gluten-free diet.
Conclusion:
The prevalence of celiac disease among first degree relatives (2.6%) was 5 times higher than that in the general population. Although the recommendations for screening asymptomatic high risk groups, such as first degree relatives, are not unanimous the early diagnosis is crucial in preventing complications, including nutritional deficiency and cancer.
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