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.
- Module 1: Gaucher Disease: Epidemiology and Pathophysiology
- Module 2: Signs and Symptoms of Gaucher Disease
- Module 3: Overcoming Diagnostic Challenges in Gaucher Disease
- Module 4: Exploring Management Strategies for Type 1 Gaucher Disease
The activities in this curriculum have been approved for AMA PRA Category 1 Credit™.
Release date: 02/28/19
Expiration date: 02/28/20
Estimated time to complete each activity: 0.25 hours
Neal Weinreb, MD, FACP
Regional Coordinator and Chair of the International Collaborative Gaucher Group
University of Miami UHealth Sylvester Cancer Center Coral Springs
Coral Springs, FL
The target audience for this initiative is physicians and other providers, including nurse practitioners and physician assistants, who may encounter patients in their practice with undiagnosed Gaucher Disease.