AI Summary
Hereditary transthyretin (TTR) amyloid polyneuropathy is a dangerous genetic disorder that affects various organs. Early diagnosis and treatment are possible through clinical characterization and biomarkers. Liver transplantation and three approved therapies, including inotersen, patisiran, and vutrisiran, can modify the disease.
Hereditary transthyretin (TTR) amyloid polyneuropathy is an autosomal dominant life-threatening disorder. TTR is produced mainly by the liver but also by the choroid plexus and retinal pigment epithelium. Detailed clinical characterisation, identification of clinical red flags for misdiagnosis, and use of biomarkers enable early diagnosis and treatment. In addition to liver transplantation and TTR stabilisers, three other disease-modifying therapies have regulatory approval: one antisense oligonucleotide (inotersen) and two small interfering RNAs (siRNAs; patisiran and vutrisiran).