PQP9: QUALITY OF LIFE OF PATIENTS WITH FABRY DISEASE

Autor: W Aliski, Marc F. Botteman, KF Gold, J M Yeh, J Ali, G. M. Pastores, CL Pashos
Rok vydání: 2001
Předmět:
Zdroj: Value in Health. 4(2)
ISSN: 1098-3015
DOI: 10.1046/j.1524-4733.2001.40202-292.x
Popis: BACKGROUND: Fabry disease (FD) is a rare genetic disorder of metabolism due to a deficiency of a lysosomal enzyme (alpha-galactosidase A) and the resultant accumulation of globotriasylceramide in the cerebrovascular and cardiovascular systems, kidney, and liver. Symptoms become manifest during childhood or adolescence and progress to include episodes of extremity pains, renal failure, cardiomyopathy, and/or strokes. OBJECTIVES: To better understand quality of life (QOL) in FD patients relative to disease progression, and normatively, compared to other chronic diseases. METHODS: Data were collected prospectively from a sample of 85 FD patients contacted through the Fabry Support and Information Group. Subjects responded to a survey that included the SF-36, a symptoms checklist, and extensive demographic questions. Information about SF-36 performance for other populations was collected from the literature. Data on 53 males are reported here. RESULTS: Patients with FD have substantially lower QOL across all domains compared to the 25th percentile of the general male population, as well as that observed for patients with Gaucher disease, renal disease, and stroke. There is also a very substantial decrease in QOL from early adulthood through middle age (data not shown here). CONCLUSIONS: These data suggest that FD places an increasing and unusually heavy QOL burden on patients, especially related to general health, physical role and vitality. Research is currently underway to determine whether enzyme replacement therapy can alleviate this burden. (See table below.) Table for PQP9 SF-36 Scores FD Males General US Male Population (25th Percentile) Gaucher Disease (Untreated) Stroke Renal Disease (Hemodialysis) Physical Function 52 80 67 65 82 Role Physical 28 75 52 54 68 Bodily Pain 49 62 65 75 70 General Health 28 62 51 64 51 Vitality 35 50 42 55 59 Social Functioning 56 75 71 86 75 Role Emotional 53 67 64 80 75 Mental Health 63 68 65 80 69
Databáze: OpenAIRE
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