Research
New data on pediatric- and adult-onset TRAPS patients from the AIDA cohort are online
A cohort of 80 AIDA patients affected by TRAPS has been recently described according to age groups (pediatric vs adult disease onset) and genotype (high vs low penetrance gene variants).
Link to article: doi:10.1155/2020/8562485
We highlighted differences in the clinical phenotype at disease onset, with pericarditis and myalgia being reported more frequently in adult-onset and abdominal pain in pediatric-onset disease. We found that abdominal pain was significantly associated also to the presence of high penetrance variants, while oral aphthosis was more frequently reported in the low penetrance variant group. The performance of the latest TRAPS classification criteria has been evaluated, showing a 80% sensitivity for the clinical + genetic set of criteria and 57.5% for the clinical set. The presence of mutations involving a cysteine residue, abdominal pain, and lymphadenopathy during flares were significantly correlated with the risk of developing amyloidosis and renal impairment.