Outcomes Study: Health-System Specialty Pharmacists as Key Players in the Early Identification of Patients with Hereditary Amyloid Transthyretin Amyloidosis

Members of our team had the opportunity to present a new poster abstract, "Health-System Specialty Pharmacists as Key Players in the Early Identification of Patients with Hereditary Amyloid Transthyretin Amyloidosis", at the NASP 2025 Annual Meeting & Expo.

Authors:

Steven Fosnight, PharmD; Amber Skrtic, PharmD; Kyle Snoke, PharmD; Maria Talos, PharmD; Casey Fitzpatrick, PharmD; Andrew Wash, PharmD, PhD; Jessica Mourani, PharmD; Ana Lopez Medina, PharmD, PhD; Christopher Sidun, PharmD

Background:

• Hereditary amyloid transthyretin (hATTR) amyloidosis is a rare genetic disease characterized by the deposition of insoluble amyloid fibrils in tissues around the body.¹
• The five-year survival rate for patient with hATTR amyloidosis is approximately 52.8% (95% CI 45.2-60.4%).² However, early initiation of treatment can significantly improve survival outcomes by slowing disease progression.³
• Early diagnosis remains a challenge due to the heterogenous clinical presentation patterns of hATTR amyloidosis, limited disease awareness, and the tendency for frequent misdiagnosis.³

Objectives:

• To describe a health-system specialty pharmacy's role in identifying and referring patients with signs and symptoms of hATTR amyloidosis for further evaluation.
  

Read about the team's findings by downloading the outcomes study below.

¹Poli L, Labella B, Piccinelll SC, et al. Hereditary transthyretin amyloidosis: a comprehensive review with a focus on
peripheral neuropathy. Front Neurol. 2023;14:1242815. doi:10.3389/fneur.2023.1242815

²Antonopoulos AS, Panagiotopoulos I, Kouroutzoglou A, et al. Prevalence and clinical outcomes oftransthyretin amyloidosis: a systematic review and meta-analysis.fur J Heart Fail. 2022;24(9):1677-1696. doi:10.1002/ejhf.2589

³Gertz M, Adams D, Ando V, et al. Avoiding misdiagnosis: expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner. BMC Fam Pract. 2020;21(1):198.doi:10.1186/ s12875-020-01252-4