Recent advances in familial amyloid polyneuropathy

Abstract

Purpose of review: To highlight the advances in the knowledge of the clinical features, diagnostic techniques, clinimetrics, and therapeutics of transthyretin familial amyloid polyneuropathy.

Recent findings: Expanding knowledge of the molecular underpinnings and therapeutics of transthyretin familial amyloid polyneuropathy have provided impetus to molecular-specific phenotype characterization, natural history studies, and target-based therapeutic interventions. These interventions have underscored the need for early, accurate diagnostic instruments and sensitive diagnostic and therapeutic biomarkers.

Summary: Current and emerging target-based therapeutic interventions and novel diagnostic techniques may contribute to improved quality of life and survival in this disease.