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Q J Med 2002; 95: 647-653
© 2002 Association of Physicians

Review

New developments in the management of Anderson-Fabry disease

A. MEHTA

From the Department of Haematology, Royal Free Hospital, London

Anderson-Fabry disease (AFD) is a rare, X-linked lysosomal storage disorder that leads to accumulation of globotriasylceramide throughout diverse cells, tissues and organs of the body. The disease usually presents in childhood, is progressive, and results in increasing disability and premature death. Female carriers tend to be less severely affected. AFD is difficult to diagnose because of its heterogeneous signs and symptoms. Awareness is low among health professionals, and diagnosis is typically delayed for several years after first presentation. Treatment was formerly entirely symptomatic, but enzyme replacement therapy has recently been licensed and management is evolving from genetic counselling and palliative care to early diagnosis and active intervention.

Address correspondence to Dr A. Mehta, Department of Haematology, Royal Free Hospital, Pond Street, London.


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