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Fabry Disease is a rare, multisystem lysosomal storage disorder with an incidence of 1:40,000-60,000. It is an autosomal recessive condition that usually presents in childhood. The clinical manifestations are highly variable and cover many organ systems; awareness is key to early detection. The window for intervention before irreversible damage occurs to end organs is time-limited, and general practitioners can play a key role in identification and early referral, and the lifelong collaborative management with the non-GP specialist team.

Learning Outcomes

1. Describe the aetiology of Fabry disease
2. List the clinical manifestations of Fabry Disease, including signs and symptoms that warrant referral to specialist services
3. Outline the multi-organ sequelae of Fabry Disease and the available treatments and interventions
4. Summarise the gentic inheritance of Fabry Disease, relevance of family history and implications for family planning
5. Describe the role of the GP in identification and collaborative management of Fabry Disease.

Details

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