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Gastroenterology

Acid sphingomyelinase deficiency (ASMD) – a guide for the gastroenterologist

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

Fellows of The Royal Australasian College of Physicians (RACP) can claim CPD credits in MyCPD for participation in this program. www.racp.edu.au/mycpd (login to MyCpd)
Cost of course:  
Free
# of credits: 0
Duration: 15 min

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