The progress in diagnosis and treatment of transthyretin amyloid polyneuropathy

Abstract

Transthyretin amyloid polyneuropathy (ATTR⁃PN) is a rare and fatal autosomal⁃dominant hereditary disease caused by TTR gene mutations featured by peripheral neuropathy with multisystem involvements. ATTR⁃PN is prone to be misdiagnosed as different types of chronic acquired peripheral neuropathy, such as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) due to the highly clinical heterogeneity, and the diagnosis is usually delayed until 3 to 4 years later. ATTR⁃PN was once reported only in a few endemic regions. However, cases from 29 countries were reported subsequently which suggested a world⁃wide distribution, and increasing Chinese ATTR⁃PN cases have been reported in recent years. So far, several target drugs have been developed and marketed, and their selection, timing and efficacy need to be fully evaluated in the clinical process. Here, we review the progress of the diagnosis and treatment of ATTR⁃PN.

Keywords

• transthyretin (not in mesh)
• amyloidosis
• peripheral nervous system diseases
• review