Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This paper is the first of its kind to study the impact of Fabry disease (FD) in affected males, and shows that FD is associated with a significant decline in several domains. Using the medical outcomes study (MOS) SF-36 and a FD-specific questionnaire, we compared the observations found among these patients with that obtained for the general US population and other chronic disease states, including Gaucher disease (GD) (another lysosomal storage disorder), end-stage renal disease, stoke and AIDS. Patients with FD have a score profile most similar to patients with AIDS. In comparison with patients with GD, Fabry patients score substantially lower across all domains. Using simple linear regression, potential predictors of health-related quality of life (HRQOL) for Fabry patients were also determined. As in the general population, stroke, cardiac problems and renal disease lead to substantial decrement in HRQOL. In addition, two disease specific symptoms (acroparesthesia and anhidrosis) and pain are also predictors of decreased quality of life. Currently, no specific therapy for FD exists. As enzyme therapy for FD becomes increasingly available, it will be interesting to evaluate the therapy's impact on the quality of life of patients.
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PMID:Quality of life of patients with Fabry disease. 1208 17

Enzyme therapy has proven safe and effective in preventing and reversing many manifestations in patients with Gaucher disease. On the basis of this success, enzyme therapy is now becoming a reality for Fabry disease, alpha-galactosidase A deficiency. Two products, agalsidase alpha and beta, have been tested in pivotal trials. The substantial differences between the study structures and outcome measures have made direct comparisons difficult. Here, the strengths and weaknesses of these trials are compared: achievement of stated endpoints, safety and, potential efficacy. In addition, the need for additional long-term data is emphasized because this is not attainable in short-term trials for a chronic disease.
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PMID:Comparative evaluation of alpha-galactosidase A infusions for treatment of Fabry disease. 1279 21