Physical Impact and Health-Related Quality of Life of Sickle Cell Disease in Adults: the Real-World Portuguese ASCEND Study

Objectives Sickle cell disease (SCD) negatively impacts patient’s health-related quality of life (HRQoL). The ASCEND study investigated how SCD impacts the HRQoL of adults in Portugal, focusing on its physical, emotional, and social burdens. Methods This non-interventional, cross-sectional study included two cohorts of adult SCD patients from seven Portuguese Reference Centers (Cohort 1) and the Portuguese Patient Association (Cohort 2). Sociodemographic and patient-reported outcomes were collected for both cohorts, along with clinical data for Cohort 1, between February-September/2022. Results 211 adult SCD patients (Cohort 1: 200; Cohort 2: 11) were included (median age of 33.0 years, 58.8% male). Nearly 90% reported complications. Patients were diagnosed at a median age of 2.0 years, mainly with the HbSS variant (89.0%), and 86.0% were under treatment (73.5% on hydroxyurea, 45.0% on chronic transfusion). All had lifetime pain episodes, with 72.6% experiencing at least one in the previous year. Most (91.9%) adopted daily strategies to prevent pain episodes, 67.1% had pain management plans, and 46.7% self-managed crises at home. Pain/discomfort (60.6%) and anxiety/depression (51.0%) were major problems (median EQ-5D-5L score = 0.91), affecting emotional well-being (53.8%) and/or social life (49.0%). Indeed, less frequent pain significantly correlated with improved HRQoL (p = 0.001). While 40.0% felt neglected, 70.5% rarely or never experienced solitude, and 84.6% reported a sense of support. Conclusion The ASCEND study reveals the multifaceted impact of SCD on adults in Portugal and its influence on HRQoL, emphasising the need for a multidisciplinary care approach and effective self-management education to improve patient outcomes.