Familial Amyloid Polyneuropathy (FAP) – An Overview

Familial Amyloid Polyneuropathy (FAP), also known as Transthyretin Amyloidosis (ATTR), is a rare autosomal dominant genetic disorder characterized by the accumulation of misfolded transthyretin (TTR) protein, forming amyloid fibrils that deposit in various tissues. This leads to progressive neuropathy and systemic complications affecting multiple organs, including peripheral nerves, the heart, and gastrointestinal systems. The primary mutation causing FAP is in the TTR gene, with common variants like Val30Met leading to the destabilization of the TTR tetramer and aggregation into amyloid fibrils. Early diagnosis and genetic testing play a crucial role in managing the disease, and emerging treatments, including TTR stabilizers and gene silencing therapies, offer promising options for improving patient outcomes.