Evaluation of clinical concordance in FMF siblings with identical biallelic exon 10 variants - PubMed
4 hours ago
- #genotype-phenotype
- #sibling study
- #FMF
- Study evaluates clinical concordance in pediatric FMF siblings with identical biallelic exon 10 MEFV variants.
- Included 194 pediatric FMF patients from 97 families, excluding monozygotic twins, analyzing 190 siblings from 95 families.
- Older siblings had longer diagnostic delays, higher Pras severity scores, and more prevalent arthritis (30% vs. 13%).
- 41% of sibling pairs showed full clinical feature concordance; 79% matched in colchicine response status.
- Monozygotic twins exhibited high clinical concordance.
- Findings suggest differences in severity and arthritis prevalence are due to diagnostic delays and age-related disease evolution, not intrinsic phenotypic divergence.