Fabry Disease and the GP: Rewarding Work with a Rare Condition

CPD EDUCATION

Now available on-demand

About this education

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.

5

Describe the role of the GP in identification and collaborative management of Fabry Disease

1

Describe the aetiology of Fabry disease

By the end of this activity, you will be able to:

3

Outline the multi-organ sequelae of Fabry Disease and the available treatments and interventions

2

List the clinical manifestations of Fabry Disease, including signs and symptoms that warrant referral to specialist services

4

Summarise the genetic inheritance of Fabry Disease, relevance of family history and implications for family planning


Learning Outcomes

Clinical Geneticist

A/Prof Carolyn Ellaway

General Practitioner & Medical Educator. MBBS(Hons), FRACGP,
GradCertClinTeach, MPH, GAICD

Dr Anita Munoz

Education Steering Committee

Praxhub is an RACGP accredited Major Provider under the RACGP CPD Program. 

Praxhub is a Certified Learning Provider under the CPD Home 2023-24 CPD Program.

This medical education activity has been approved for 1 CPD hour with: 

Activity ID: 844667

Activity ID: 851

Continuing Professional Development (CPD) Details

Praxhub would like to acknowledge Amicus Therapeutics for its support of this education. The sponsor has provided no input into the content of this activity.

To access hundreds of quality CPD training courses, simply join Praxhub's online medical community

Australian Eastern Standard Time: 7:30pm

Melbourne/Canberra/Sydney/Brisbane/Hobart (GMT+10)


Norfolk Island Daylight Time: 8:30pm

(GMT+11)


Australian Central Daylight Time: 7:00pm
Adelaide (GMT+9.30)


Australian Western Standard Time: 5:30pm
Perth (GMT+8)


Christmas Island Time: 4:30pm
(GMT+7)

Australian Timezones

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