Data from: Natural history and survival in stage 1 Val30Met transthyretin familial amyloid polyneuropathy

Objectives: To assess natural history and treatment effect on survival among transthyretin-associated familial amyloid polyneuropathy (TTR-FAP) Val30Met patients. Methods: Multi-institutional, hospital-based study of TTR-FAP Val30Met patients prospectively followed-up until December 2016, grouped into untreated (n = 1,771), liver transplant (LTx) (n = 957) or tafamidis-treated (n = 432) cohorts. Standardized mortality ratios (SMR), Kaplan-Meier and Cox methods were used to estimate excess mortality, survival probabilities and adjusted hazard ratios (HR) for all-cause mortality, respectively. Results: Disease-modifying treatments decreased TTR-FAP excess mortality from ten to four (SMR 3.92, 95% CI 2.64–5.59). Median overall survival of untreated and LTx-treated cohorts was 11.61 (95% CI 11.14–11.87) and 24.73 years (95% CI 22.90-27.09), respectively, and was not reached in the tafamidis-treated cohort (maximum follow-up, 10 years). Both disease-modifying treatments improved survival. Among early-onset patients (<50 years of age) tafamidis reduced the mortality risk compared with untreated patients by 91% (HR 0.09, 95% CI 0.03–0.25, p < 0.001) and with LTx-treated patients by 63% (HR 0.37, 95% CI 0.14–1.00, p = 0.050). Previous tafamidis treatment did not affect mortality risk after LTx (HR 0.83, 95% CI 0.25-2.78, p = 0.763). Among late-onset patients (≥50 years), tafamidis reduced mortality risk by 82% compared with untreated patients (HR 0.18, 95% CI 0.06-0.49, p = 0.001). Conclusions: LTx and tafamidis convey substantial survival benefits, but TTR-FAP mortality remains higher than in the general population. These results strongly reinforce the importance of timely diagnosis and earlier treatment, boosting the pursuit for an increased life expectancy.

External deposit with Dryad.