A retrospective observational analysis of the real-world care pathway of people with hereditary transthyretin amyloidosis with polyneuropathy in Italy.

Background: This retrospective observational study described the epidemiology and the burden on the Italian healthcare service (SSN) of patients with polyneuropathy (PN) associated with hereditary transthyretin amyloidosis (ATTRv).

Research design and methods: From the Fondazione ReS (Ricerca e Salute) administrative healthcare database (~5.5 million inhabitants in 2021), patients were identified as having ATTRv-PN in 2021 if they had received treatments for ATTRv-PN under SSN reimbursement (i.e. tafamidis, patisiran, or inotersen) from 1 January 2014 to 31 December 2021 (index date in 2021). Demographics and comorbidities at the baseline, healthcare resource consumption, and related direct costs reimbursed by the SSN throughout the one-year follow-up were described.

Results: In 2021, 36 patients with ATTRv-PN (prevalence: 7.4/1,000,000) were identified (males were 83.3%; patients with ≥2 comorbidities were 61.1%; the mean age was 73 ± 8 years). During follow-up, of patients, 91.7% received drugs for ATTRv-PN; >50% received antiepileptics and acid suppressants; 22.2% were admitted to overnight hospitalizations; 30.6% accessed the emergency department; 97.2% received local outpatient specialist care. The per patient mean annual cost was € 122,017; drugs for ATTRv-PN accounted for 94.7% of the total expenditure.

Conclusions: This study of real-world patients with ATTRv-PN showed a high rate of comorbidities, and substantial direct healthcare and economic burdens on the SSN.