Update in the diagnosis and management of transthyretin familial amyloid polyneuropathy

摘要

Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a progressive neurodegenerative and systemic genetic disease first identified in Portugal, now reported worldwide. During the past few years our knowledge on the phenotypic presentation of this devastating condition has remarkably expanded including a wide variation in age of onset, different neuropathic patterns and patients presenting with isolated or predominant cardiac involvement. Liver transplantation, the first therapeutic approach, although invasive, has been shown to halt the progression of the neuropathy in young onset patients. Fortunately, several disease-modifying treatments are now available or in clinical development including TTR stabilizers and gene therapy. Their efficacy is higher if administered at the earliest disease stage. Thus, management of TTR-FAP patients is a moving field with need for early diagnosis using new diagnostic tools and new therapeutic options.