Challenges of Diagnosing and Caring for an Individual with Gaucher Disease
| Overview / Abstract: |
Although making a proper diagnosis can sometimes be a challenge even for common illnesses, in cases of patients who present with a rare disease such as Gaucher disease, properly diagnosing the disorder is especially challenging. Gaucher disease specialists often come across individuals who have lived with symptomatic Gaucher disease for years—into middle age or beyond—at which point treatment is much less effective. Although these individuals can gain some benefit from treatment, irreversible damage has often already occurred. Early consideration of Gaucher disease in the differential diagnosis of non-Gaucher disease specialists could allow individuals to avoid this outcome and gain maximal quality of life with effective therapy. The modules of this digital learning, CME-certified curriculum focus on the challenges of making a diagnosis of Gaucher disease, and how to co-manage these patients with the Gaucher disease expert once diagnosed. |
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Expiration |
Apr 15, 2020 |
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Discipline(s) |
Nurse Practitioner , Physician CME, Physician Assistant CME |
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Format |
Webinar / Webcast / Video |
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Cost |
Free |
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Credits / Hours |
1 |
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Accreditation |
American Academy of CME, Inc. |
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Is This Activity Certified for "Live" Credit? |
YES |
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Presenters / Authors / Faculty |
Neal Weinreb, MD, FACP |
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Activity Specialities / Related Topics |
Pediatrics, Pain Management, Orthopedics, Oncology / Cancer / Radiation Therapy, Neurology, Hematology, Genetics, Gastroenterology / GI |
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Sponsors / Supporters / Grant Providers |
Sanofi / Genzyme |
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Keywords / Search Terms |
Lysosomal Storage Disorder, Lysosomal, LSD, Gaucher, Gaucher disease, Neal Weinreb MD, Hematology, Genetics, Type 1 Gaucher, hepatosplenomegaly, splenomegaly, Ashkenazi, glucocerebroside, Glucosylceramide synthase inhibitors, miglustat, Zavesca, eliglustat, Cerdelga, cerezyme, hematology, neurology, genetics, Enzyme replacement therapy, Substrate reduction therapy, Diagnostic enzyme test, rare disease, checkrare, checkorphan |
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