oa Journal of Endocrinology, Metabolism and Diabetes in South Africa - Anderson-Fabry disease : recommendations for its diagnosis, management and treatment in South Africa, 2014 : guidelines
Background: Anderson-Fabry disease (AFD) is a rare, X-linked lysosomal storage disorder that leads to the accumulation of globotriasylceramide in the lysosomes in tissues throughout the body. The responsible gene is α-galactosidase A, found at chromosome Xq22. More than 400 mutations have been identified. The disease usually presents in childhood, is progressive and multisystem, and results in increasing disability and premature death.
Objective: The objectives of these guidelines are to provide a standard of care for patients with AFD that is in keeping with that internationally, but which is also realistic for South Africa, and to provide a shared-care model for treating physicians and funders with regard to various aspects of care for these patients.
Recommendations: All heathcare professionals involved in the diagnosis and management of AFD should take note of these guidelines and try to implement them in clinical practice as far as possible.
Validation: These guidelines were developed through general consensus by the Lysosomal Storage Disorder Medical Advisory Board, and are largely based on the UK 2005 national guidelines for AFD, but have also been updated to include new treatment recommendations for enzyme replacement therapy based on evidence from subsequent publications.
Conclusion: It is the intention that these guidelines will benefit all patients suffering from AFD disease, and enable them to be diagnosed and offered the best possible available care.
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