Transthyretin familial amyloid polyneuropathy

Abstract

Transthyretin family amyloid polyneuropathy (TTR-FAP) is a progressive, ultimately fatal disease. It manifests itself primarily with sensory, motor and autonomic polyneuropathy and/or cardiomyopathy and is caused by extracellular deposition of insoluble amyloid fibrils in the endoneurium. The cause of TTR-FAP is the mutation in the gene encoding transthyretin, more than 100 types of mutations are known. Given the phenotypic diversity of TTR-FAP, it is difficult for clinicians to make this diagnosis. An erroneous diagnosis is a frequent occurrence, risking the onset of an organ pathology. The paper addresses the issues of the pathogenesis, diagnosis and treatment of TTR-FAP.