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• W2082227341 abstract "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 PQP9SF-36 ScoresFD MalesGeneral US Male Population (25th Percentile) Gaucher Disease (Untreated) StrokeRenal Disease (Hemodialysis) Physical Function5280676582Role Physical2875525468Bodily Pain4962657570General Health2862516451Vitality3550425559Social Functioning5675718675Role Emotional5367648075Mental Health6368658069" @default.
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• W2082227341 date "2001-09-01" @default.
• W2082227341 modified "2023-09-29" @default.
• W2082227341 title "PQP9: QUALITY OF LIFE OF PATIENTS WITH FABRY DISEASE" @default.
• W2082227341 doi "https://doi.org/10.1046/j.1524-4733.2001.40202-292.x" @default.
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