How we diagnose and treat hereditary transthyretin-mediated amyloidosis with polyneuropathy in the Balkan region: an expert opinion

Hereditary transthyretin-mediated (ATTRV; v, variant) amyloidosis is a genetic disorder that causes abnormal accumulation of amyloid deposits in organs and tissues. The most common neurological manifestation is polyneuropathy (PN) of the autonomic nervous system, cardiac involvement and average survival of 6–12 years since onset of symptoms. Recent years have been marked by advancements in diagnosis and management of ATTRv amyloidosis with PN. In Balkan countries, endemic regions for some TTR gene mutations exist, with particularities in patient’s access to care given the different health infrastructure set-up. A panel of multidisciplinary experts from Bulgaria, Croatia, Serbia and Slovenia have gathered to discuss country-specific insights and approaches on the current ATTRv amyloidosis with PN diagnosis and management, sharing challenges and best practices. Each country has instituted various strategies for screening, genetic testing, treatment and follow-up of patients. As an endemic country with an older center of excellence in place, Bulgaria has currently a high rate (95%) of patients with ATTRv amyloidosis with PN diagnosed in the early stages of the disease. Across the other countries, delays in referral to a specialist for diagnosis and initiation of treatment have been noted due to insufficient awareness of the disease among other healthcare professionals, low availability of therapies or issues with reimbursement. Enhancement of interdisciplinary collaboration, clinical awareness and screening programs are the key areas of improvement in the Balkan region.