[Expert Consensus Recommendations for the Diagnosis of Hereditary Transthyretin Amyloidosis with Polyneuropathy (hATTR-PN) in Chile].

Hereditary transthyretin amyloidosis is an autosomal dominant disease caused by mutations in the TTR gene, which encodes the protein transthyretin. It is characterized by the deposit of mutated transthyretin in multiple organs and systems, mainly the heart and peripheral nervous system, causing different forms of polyneuropathy. It is a progressive, disabling and fatal disease. Early diagnosis of hereditary amyloidosis, including amyloidotic neuropathy, is currently relevant, as there are specific treatments that modify the natural course of the disease. The purpose of this consensus is to provide recommendations for Chile, based on scientific evidence, which facilitate the suspicion and early diagnosis of familial amyloidosis, focused on those patients who present with neuropathy as the initial manifestation, to facilitate the timely treatment of affected patients. A recommendation was developed by consensus through the Delphi method by eight Chilean neurologists specialized in neuromuscular diseases. The existing bibliographic evidence up to July 2024 was analysed. In patients with idiopathic sensory-motor axonal neuropathy, familial amyloidosis should be suspected if there are other family members who are also affected, if there is associated heart disease, dysautonomia, carpal tunnel syndrome, and/or multisystem involvement, in which early genetic screening is recommended. Demonstration of amyloid deposits in affected tissues and organs, such as nerves and heart, is recommended, although not mandatory, to establish a definitive diagnosis of the cause before prescribing specific treatment.