This study sought to explore the following issues 1) health-related quality of life (HRQoL) in Fabry patients relative to the general population 2) the quality of life (QoL) level in heterozygous females as compared to hemizygous males and the general population. A prospective, cross-sectional study was performed in patients diagnosed with Fabry disease in Poland (n=33). HRQoL was assessed with two generic questionnaires: the Medical Outcomes Study Short Form-36 (SF-36) and EuroQol questionnaire (EQ-5D), which includes the EQ-5D descriptive system and the EQ-visual analogue scale (EQ VAS), as well as a disease-specific author’s questionnaire. When measured with EQ-VAS, the subjective perception of health status was significantly lower in Fabry patients than that of the general population. SF-36 norm-based scores showed that patients are disadvantaged mainly in social functioning, bodily pain, and mental health. Objective assessments of HRQoL according to the EQ-5D Index tend to be lower for males than for females. Only male patients experienced extreme problems identified by the EQ-5D descriptive system. HRQoL of Fabry patients, measured by EQ-5D and SF-36, is lower as compared with that of the general population. Fabry disease effects QoL in its physical, mental and social dimensions.
 Desnick RJ, Ioannou YA, Eng CM. a-Galactosidase Deficiency; Fabry Disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B (eds). The Metabolic & Molecular Bases of Inherited Disease, New York, The McGraw-Hill Companies Inc., 2001:3733–3774
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