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The pathogenesis of hereditary ATTR (ATTRv) amyloidosis has been elucidated, and disease-modifying drugs with multiple mechanisms of action are used clinically. The International Society of Amyloidosis (ISA) guidelines strongly recommend treating ATTRv amyloidosis patients with transthyretin (TTR) tetramer stabilizers or TTR gene silencers (e.g. small-interfering RNA, antisense oligonucleotide). Tafamidis and vutrisiran are indicated for both polyneuropathy (ATTRv-PN) and cardiomyopathy (ATTR-CM), patisiran, eplontersen and diflunisal are for ATTRv-PN only, and acoramidis is for ATTR-CM only. Eligibility for treatment varies by country and is heterogeneous. These disease-modifying drugs are most effective before significant end-organ dysfunction has ensued, making early diagnosis of ATTRv amyloidosis essential. With multiple treatment options existing, it is important to accumulate evidence regarding treatment selection, switching and combination therapy. The currently available disease-modifying therapeutics have a limited effect on central nervous system (CNS) and ocular manifestations since they target either blood circulating TTR from the liver or ATTR amyloid fibrils misfolding in the blood and depositing in systemic (non-CNS, non-ocular) tissues. Development of disease-modifying therapies for CNS and ocular ATTR amyloidosis is an urgent unmet medical need.
Sekijima et al. (Thu,) studied this question.