[Transthyretin-related hereditary amyloidosis].

Transthyretin-related hereditary amyloidosis (ATTR) is a progressive and potentially lethal genetic disorder, transmitted as an autosomal dominant trait. Tissue injury is induced by amyloid fibrils consisting of mutated transthyretin. The symptomatology and clinical course of ATTR is highly variable but typically causes peripheral polyneuropathy and autonomic dysfunction, leading to death within 10 years. As transthyretin is produced mainly in the liver, liver transplantation was the first successful therapeutic approach. Several disease-modifying treatments, including transthyretin stabilizers and gene therapy, are now available or in clinical development, with promising results.