Real life experience of tafamidis for the treatment of Spanish patients with Val30Met transthyretin amyloidosis with polyneuropathy.

Introduction: Tafamidis is the only approved transthyretin stabiliser approved for the treatment of variant transthyretin amyloidosis (A-ATTRv) related polyneuropathy (PNP). The aim of this study is to analyse the effectiveness of tafamidis in a real-world setting in Spain.

Methods: This is a national multicenter study in which patients with V30M A-ATTR related PN treated with tafamidis for at least 1 year were included.

Biomarkers of axonal damage to favor early diagnosis in variant transthyretin amyloidosis (A-ATTRv).

Early identification of ATTRv amyloidosis disease onset is still often delayed due to the lack of validated biomarkers of this disease. Light chain neurofilament (NfL) have shown promising results in early diagnosis in this disease, but data is still needed, including with alternative measuring methods. Our aim was to study the levels of NfL measured by ELISA.

Inotersen and severe thrombocytopenia: 2 case reports and review.

Hereditary transthyretin amyloidosis (hATTR) is an ultra-rare illness. Inotersen is a 2'-O-methoxyethyl (2'MOE)-modified antisense oligonucleotides (ASO) approved in 2018 as a polyneuropathy treatment for adults with hereditary transthyretin amyloidosis stages 1 or 2. Inotersen can produce grade 4 thrombocytopenia as a severe adverse reaction that can lead to potentially fatal hemorrhage complications.