RESUMO

BACKGROUND: Fabry disease (FD) is a lysosomal disease in which mutations affect the GLA gene located on the X chromosome. The defective product, the enzyme alpha-galactosidase A, causes accumulation of substrate and contributes to the disruption of cell function in several organs, with variable severity and consequent damage of tissue or organ function. Patient reported outcomes (PROs) enable patients to provide information regarding the consequences of their disease and its treatment and are often recognized as the most important outcomes for them. OBJECTIVES: To evaluate pain, depression, sleep disturbances, disability and disease impact on quality of life in a cohort of Brazilian FD patients and compare between groups stratified by the Mainz Symptom Severity Index (MSSI) Methods: Thirty-seven genotype confirmed classic FD patients - 16 male and 21 female - (mutations: C142R, A156D, L180F, R227X, W262X, G271A, P293S, Y264SX) were evaluated and answered the following questionnaires: Brief Pain Inventory (BPI), Hamilton Depression Rating Scale (HAM-D), Pittsburgh Sleep Quality Index (PSQI), Health Assessment Questionnaire Disability Index (HAQ-DI), Short-Form Health Survey 36 (SF-36). RESULTS: In FD patients, mean ± SD BPI severity result was 2.78 ± 2.66 for severe; 2.80 ± 2.55 for moderate and 1.55 ± 2.38 for mild severity patients. Mean ± SD BPI interference result was 2.55 ± 2.44 for severe; 2.80 ± 3.18 for moderate and 1.36 ± 2.83 for mild patients. BPI severity and interference values correlated with MSSI scores (r = 0.24; p < .001 / r = 0.25; p < .001). Application of HAM-D indicated depression in 21 patients (56.8%). HAM-D results had positive correlation with MSSI values (r = 0.21; p < .001), with BPI severity (r = 0.54; p < .001) and interference (r = 0.65; p < .001). PSQI depicted sleep disturbances in 22 patients (59.5%). PSQI values correlated with MSSI values (r = 0.25; p < .001), with HAM-D results (r = 0.65; p < .001) and BPI severity (r = 0.47; p < .001) and interference (r = 0.66; p < .001). Mean HAQ-DI result was 0.490 for severe; 0.274 for moderate and 0.157 for mild severity patients. CONCLUSIONS: Depression, sleep disturbances and disability were under-recognized in FD patients. HAQ-DI revealed worse disability according to MSSI severity status. The lowest raw scores from the SF-36 questionnaire were for the domains general health perception and physical role functioning. Standardized assessments should be routine care and started as early as diagnosis of Fabry disease is made.

RESUMO

This article is a revision of the genesis and use of the health synthetic indicators QALYs and DALYs. The chronology of their appearance is shown and similarities and differences between them stated. DALYs (Disability-Adjusted Life-Years) correspond to years of life that are adjusted by a certain level of disability experienced during a particular period of time. DALYs, by studying disease burden, summarize the impact of mortality and disability related to specific disease in different communities. On the other hand, QALYs (Quality-Adjusted Life-Years) summarize health results in an indicator that combines the number of years lived with the quality of life experienced over those years. QALYs and DALYs play a crucial role as results measures in economic evaluation studies (cost-effectiveness and cost-utility analysis) measuring the impact of actions or specific interventions in the reversion of disease burden (DALYs) and/ or the improvement of the quality of life and life expectancy of patients (QALYs). Their generic character allows the comparison of the impact of health interventions for different diseases.

En el presente artículo se revisa la génesis y uso de los indicadores sintéticos de salud QALYs y DALYs. Se muestra la cronología de su aparición y se establecen las semejanzas y diferencias entre los mismos. Los DALYs (Disability Adjusted Life Years) corresponden a los años de vida ajustados por la Discapacidad o AVADs por su sigla en español. Los DALYs resumen, mediante estudios de carga de la enfermedad, el impacto de la mortalidad y discapacidad asociada a enfermedades especificas, en distintas comunidades; en cambio los QALYs (Quality Adjusted Life Years) sintetizan los resultados de salud en un indicador que combina el número de años vividos con la calidad de vida experimentada durante esos años. QALYs y DALYs cumplen hoy un papel esencial como medidas de resultado en los estudios de evaluación económica (análisis de costo efectividad y costo utilidad) midiendo el impacto de acciones o intervenciones especificas para revertir la carga de la enfermedad (DALYs) y/o mejorar la calidad y esperanza de vida de pacientes (QALYs). Su carácter genérico permite comparar el impacto de intervenciones de salud entre diferentes enfermedades.