Phenotype variability and therapeutic response to Patisiran in patients with hereditary transthyretin amyloidosis: a Belgian real-world experience.

Abstract

Introduction: Hereditary transthyretin amyloidosis (hATTRv) is a rare, genetic, adult-onset, multisystemic disorder which can affect diverse organs, including peripheral nerves, heart, kidneys, gastrointestinal tract, liver, skin and eyes. Currently, several disease-modifying treatments for hATTRv are available in Belgium including the TTR stabilizer tafamidis and TTR mRNA silencers patisiran and vutrisiran. Patisiran contains a small interfering RNA encapsulated into a lipid nanoparticle to deliver to hepatocytes, the main source of TTR protein production, thereby reducing TTR production.

Methods: We report and discuss five cases of hATTRv in different clinical scenarios that were successfully managed with patisiran, highlighting our real-world clinical practice.

Results: These cases illustrate that patisiran is effective to improve mild symptoms and stabilize the moderate ones. The cases also highlight the importance of red flags recognition to allow early diagnosis and treatment to prevent further disease progression.

Conclusion: Due to the multisystemic nature of the disease and its heterogeneous clinical presentation, close collaboration between neurologists and cardiologists is highly recommended, ideally within a multidisciplinary amyloidosis team, to provide holistic care in hATTRv patients.