Screening for hereditary transthyretin amyloidosis in Bulgaria

Transthyretin amyloid (ATTR) amyloidosis is a rare disorder with an adult-onset defined by the accumulation of misfolded fibrils predominantly in peripheral nerves, the heart, and the digestive tract. The disease is characterized by two forms - hereditary (ATTRv) or acquired (ATTRwt). Various point mutations in the transthyretin gene induce the hereditary form of the disease. For finding new cases of ATTR amyloidosis and proper screening, the establishment of a multidisciplinary team and a Centre of Excellence (CoE) is essential. CoE provides regular education and training for better diagnosis and treatment. In the current review, we focus on the importance of having a multidisciplinary team and CoE, the screening strategy for ATTR amyloidosis in Bulgaria, and assessments performed when a patient is first suspected of having this rare disease.