PW02-014 - Long term outcome and quality of life in TRAPS

TRAPS is a rare autosomal dominant disease. The long term outcome in adults has been relatively little studied.


Introduction
TRAPS is a rare autosomal dominant disease. The long term outcome in adults has been relatively little studied.

Objectives
We describe a cohort of 80 patients with sequence variants in TNFRSF1A who attended our centre for diagnosis and management.

Methods
We examined medical and laboratory records for investigation and test results including genotype, phenotype, treatments and treatment responses, and organ function.

Results
Between 2000 and 2012, 80 individuals with sequence variants and clinical disease were identified: 26 (33%) with one of the pathogenic variants of undetermined significance, R92Q or P46L; and 54 (67%) with one of a variety of other known or novel pathogenic variants. 32 (40%) were male, and 42 (53%) had a positive family history.
Health-related quality of life (QoL) was surveyed in 29 patients with a pathogenic sequence variant, 10 who were treated only with intermittent steroids as their phenotype was not severe enough to warrant use of biologics, and 8 were surveyed before and after commencement of biologic therapy. In the latter group, post-treatment scores in physical, role and social functioning and bodily pain, general health and vitality were all greatly improved from prior to treatment. Interestingly, those who were only treated with intermittent steroids showed scores comparable with the post-treatment scores of the group treated with biologics, showing the impact of the untreated, more severe phenotype on QoL.

Conclusion
This cohort shows the great variability in genotype and phenotype associated with sequence variants in TNFRSF1A. Those with a less severe phenotype may enjoy National Amyloidosis Centre, University College London, London, UK a good`quality of life, and this may also be achieved by those with more severe disease provided they are being treated effectively.

Disclosure of interest
None declared.