Transthyretin amyloidosis: Testing strategies and model for center of excellence support

Abstract

Appropriate testing strategies and strict model for Center Of Excellence (CoE) support are essential for the correct diagnosis, follow-up strategy and treatment plan for transthyretin (ATTR) amyloidosis. CoE is defined as a programme within a healthcare institution established to provide an exceptionally high concentration of expertise and related resources centred on a particular area of medicine, delivering associated care in a comprehensive, interdisciplinary fashion to afford the best patient outcome. Ideally, CoEs provide regular education and training for healthcare professionals and share knowledge and learning with other CoEs and specialists to ensure the highest standards of care. CoEs and testing strategies are of significant value to those with rare diseases and their families, as there is naturally low awareness among healthcare professionals, a phenomenon that potentially delays diagnosis and treatment. In this review, we focus on the importance of performing the most appropriate testing strategies for ATTR amyloidosis and establishing a CoE for this rare disease. We highlight our experience in establishing a CoE in Sofia, Bulgaria and define the fundamental steps needed to successfully launch a programme.

Keywords: Centre of excellence; Rare disease; Testing strategies; Transthyretin amyloidosis.