On the Front Lines of Diagnosis: Preventing Diagnostic Delays in MPS I and Other LSDs
Lorne Clarke, MDCM, FRCPC, FCCMG
Professor, Department of Medical Genetics
Provincial Medical Genetics Program
University of British Columbia
British Columbia, Canada
Iwona Misiuta, PhD, MHA
Clinical Content Manager
Rebecca L. Julian, MS, ELS
Senior Manager, Editorial
Kathryn Schaefer, MSN, RN, CPHRM
Senior Manager, Accreditation and Compliance
East Lansing, MI
Upon completion, participants should be able to:
- Recognize early signs and symptoms of MPS I from birth to adolescence
- Perform necessary tests to determine whether a patient has MPS I and may require referral to a specialist
This activity is intended for pediatricians, family practice physicians, and general practice physicians.
Statement of Need
Lysosomal storage disorders (LSDs) can have devastating effects and cause irreversible damage if patients are not identified and properly managed early in the disease course. Indeed, identifying the LSD MPS I early on is essential for disease prognosis and management. Initiating treatment before irreversible damage has occurred can stabilize the patient and possibly delay disease progression. Pediatricians and family physicians are on the front lines of identifying patients with MPS I. However, most of these clinicians are unaware of MPS I symptoms, even though nearly all patients with MPS I show signs by 6 months of age. Therefore, it is important for pediatricians and family physicians to be educated on MPS I symptom presentations throughout the course of the disease. It is also imperative for these clinicians to know which test to perform or when to refer patients for further testing and disease management.
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Medium/Method of Participation
This CME activity consists of a 0.5-credit online publication. To receive credit, read the introductory CME material, read the publication, and complete the post-survey, evaluation, attestation, and post-test, answering at least 70% of the post-test questions correctly.
Initial Release Date: December 24, 2019
Expiration Date: December 23, 2020
Estimated Time to Complete This Activity: 30 minutes
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Lorne Clarke, MDCM, FRCPC, FCCMG
Consulting fees/advisory boards: BioMarin, Sanofi Genzyme
Fees received for promotional/non-CME activities: BioMarin, Sanofi Genzyme
The writer, peer reviewers, and activity planners have no financial relationships to disclose.
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This activity is supported by an educational grant from Sanofi Genzyme.
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