OBJECTIVES: Transthyretin Familial Amyloid Polyneuropathy (TTR-FAP) is a rare, progressive, debilitating and life-threatening neurodegenerative disease. The purpose of this study was to assess the health-related quality of life (HRQoL) factors for TTR-FAP patients.

METHODS: HRQoL was measured using the validated EuroQoL five dimensions three levels (EQ-5D-3L) questionnaire being the index score calculated trough the Portuguese scoring algorithm. TTR-FAP symptomatic patients specific data (n = 566) extracted from Transthyretin Amyloidosis Outcomes Survey (THAOS) registry. Demographic variables include gender and age. Clinical variables include disease onset (early/late), polyneuropathy disability (PND) score, liver transplant and pharmacologic treatment. Econometric analyses were carried out to identify factors that impact TTR-FAP HRQoL.

RESULTS: In a scale from -0.50 to 1.00 the average utility score 0.50(0.37) for symptomatic TTR-FAP patients. Within TTR-FAP population, significant statistical effect (p-value <0.005) was observed for age, pharmacologic treatment and disease severity. No significant statistical effect was observed for gender, late onset patients (>50 years) and liver transplant. CONCLUSIONS: The preference-based utility measures used in this study adequately disentangle TTR-FAP impact on patient’s quality of life and allow discriminating across different TTR-FAP clinical severity states, interventions and demographic characteristics. Assuming that these values represent the patients' preferences and the utility associated with their health state, the results presented in this study may be used in future health technologies cost-utility studies.