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A family study of coeliac disease
Insights
First-degree relatives of children with coeliac disease (CD) have a tenfold increased risk of developing CD. Screening is recommended for relatives with malabsorption symptoms, but routine biopsies for all relatives are impractical.
Area of Science:
- Gastroenterology
- Genetics
- Pediatrics
Background:
- Childhood coeliac disease (CD) diagnosis requires rigorous criteria.
- First-degree relatives of individuals with CD have a higher predisposition.
- Understanding the prevalence of CD in relatives is crucial for early detection.
Observation:
- A study involved 100 first-degree relatives of 32 children diagnosed with coeliac disease.
- Small intestinal biopsies were performed on all participating relatives.
- The study aimed to assess the prevalence of CD in this high-risk group.
Findings:
- Coeliac disease was diagnosed in 2.0% of the first-degree relatives.
- This indicates a tenfold increased risk compared to the general Swedish population.
- Five relatives showed moderately abnormal mucosa, which normalized upon rebiopsy, not meeting CD criteria.
Implications:
- Routine biopsy for all first-degree relatives is not practical due to resource limitations.
- Prioritizing relatives with current or past malabsorption symptoms for biopsy is recommended.
- This approach balances early detection with efficient healthcare resource allocation.
Abstract:
Small intestinal biopsy was performed in all 100 first-degree relatives of 32 index patients with childhood coeliac disease (CD) diagnosed according to the European Society for Paediatric Gastroenterology and Nutrition. CD was found in 2 relatives (2.0%), which means that first-degree relatives of coeliac children would run a ten-fold increased risk of CD compared with the general population of Sweden. Five relatives had a moderately abnormal mucosa. On rebiopsy they had a normal mucosa and are therefore not classified as having CD according to current diagnostic criteria. For practical purposes it would be impossible to perform a biopsy in all first-degree relatives of coeliac patients. However, relatives with a past history of symptoms suggestive of malabsorption and relatives with present signs of malabsorption should be candidates for biopsy.