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Gastroenterology
A gastroenterologist’s guide to Fabry disease diagnosis and management
Inherited lysosomal storage disorders are individually rare, but together represent a major challenge for health care. Symptom management and supportive care remain the mainstays of treatment for patients with these highly heterogeneous and progressive conditions, and gastroenterologists play a vital role in the early recognition, investigation and referral of these patients for full genetic testing and individualised management.
This video case-study based program aims to support the critical role of the gastroenterologist in the timely diagnosis and effective treatment of these potentially devastating inherited conditions.
This program is supported by an independent medical educational grant provided from Sanofi Genzyme.
DURATION
15 min
PROFESSION
Specialist
# OF CREDITS
0
ACCREDITATION
Unaccredited
EXPIRY DATE
2021-12-10
Inherited lysosomal storage disorders are individually rare, but together represent a major challenge for health care. Symptom management and supportive care remain the mainstays of treatment for patients with these highly heterogeneous and progressive conditions, and gastroenterologists play a vital role in the early recognition, investigation and referral of these patients for full genetic testing and individualised management.
This video case-study based program aims to support the critical role of the gastroenterologist in the timely diagnosis and effective treatment of these potentially devastating inherited conditions.
This program is supported by an independent medical educational grant provided from Sanofi Genzyme.
Faculty
Dr Yusof Rahman,
Department of Genetic Medicine & Pathology,
Pathology West – ICPMR Westmead, NSW
Dr Ruth Hodgson,
Brisbane Gastro, Brisbane, QLD
Dr Nicolas De Luca,
St Vincent’s Clinic, Darlinghurst, NSW
Learning objectives
On completion of this program, participants will be better to:
- Identify red flags and symptoms for a variety of rare diseases
- Describe the likely impact of timely diagnosis and intervention on the progression of rare diseases
- Select appropriate diagnostic tests for patients with suspected rare diseases
- Recognise that disease specific treatment is available for some rare diseases
Accreditation
#
of credits: 0
Duration: 15 min
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