Hereditary Transthyretin amyloidosis (hATTR) is a rare autosomal dominant, multisystemic, progressive, and potentially fatal genetic disease. Currently, the only drug made available in the Brazilian National Health System to treat hATTR is tafamidis meglumine, indicated for symptomatic adult patients in early stage (stage 1) and not undergoing liver transplantation for amyloidosis associated with hATTR.

A systematic review was conducted in the databases MEDLINE via Pubmed, Embase, The Cochrane Library, and LILACS addressing the question “Is patisiran treatment effective and safe for patients diagnosed with ATTRh amyloidosis with stage 2 polyneuropathy or who have an inadequate response to tafamidis?”

The 13 studies included in the review demonstrate the efficacy of patisiran in reducing the neuropathic progression of the disease, as evidenced by decreased mNIS+7 scale scores following 18-month use of the drug. Improvements in the quality of life of patients taking patisiran have been reported, as measured by reduced scores on the Norfolk-QoL-DN scale. Patisiran has also been shown to be effective in reducing NT-proBNP, a marker related to cardiac stress. Improvements in the nutritional status of patients taking patisiran were demonstrated by increasing modified body mass index (BMI). Good tolerability of patisiran was observed by patients using it. Most adverse events were classified as mild or moderate. The studies indicated that the occurrence of deaths is similar between the patisiran and placebo groups. Most deaths were related to cardiac events and were not associated with the use of patisiran.

The use of patisiran in patients with hATTR demonstrated efficacy in reducing the neuropathic progression of the disease, evidenced by decreased mNIS+7 scale scores, improvements in quality of life as measured by reduced Norfolk-QoL-D scale scores, and reduced NT-proBNP. The drug patisiran was well tolerated, with most adverse events rated as mild and moderate.