What's new in the treatment of amyloidosis? Part 2: Cardiomyopathy due to transthyretin amyloidosis

Abstract

Transthyretin deposition amyloidosis is a rare disease caused by the deposition of fibrils of this protein in various tissues, although the most common manifestations are cardiac and neurological. It can be acquired (formerly known as “senile amyloidosis”) or hereditary due to mutations in the gene encoding for transthyretin (TTR).In 2020, the Amyloidosis Study Group created clinical practice guidelines for treating transthyretin amyloidotic cardiomyopathy. Since then, published clinical trials have strengthened the available knowledge, and new lines of research have emerged. This review updates the mentioned guidelines by exploring the state of the art. In the case of transthyretin (TTR) amyloidosis cardiomyopathy, therapeutic strategies are predominantly aimed at reducing the production and aggregation of TTR apart from providing supportive treatment for organ damage. Tafamidis, a TTR stabilizer that prevents its aggregation and deposition, is increasingly supported by evidence for its use in improving the survival of patients with this condition. Gene therapies such as messenger RNA silencers or in vivo gene editing to inhibit the expression of the gene encoding for TTR and generate long-term therapeutic effects are under investigation. Multiple monoclonal antibodies have been part of ongoing clinical trials since 2020.

Keywords

• amyloidosis
• transthyretin
• infiltrative cardiomyopathy
• treatment
• update guidelines