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The activity "Manifestations of Gaucher Disease: Rare or Under-recognized?" is currently unavailable.
Please refer to the Educational Activities Menu for a complete list of available offerings.
The educational activity, Manifestations of Gaucher Disease: Rare or Under-recognized?, is available on 2/23/2023.
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How confident are you in your ability to identify rare and/or atypical manifestations of Gaucher Disease in both diagnosed and undiagnosed patients?
To what extent do you agree with the following statement: Current diagnostic and monitoring methods are adequate for recognizing rare manifestations of Gaucher Disease?
Which of the following is the greatest barrier in your practice to implementing patient-centric management strategies within a multidisciplinary team to optimize long-term outcomes of patients with Gaucher Disease?
Hemostatic dysfunction related to Gaucher Disease can persist post-initiation of disease directed therapy in the form of:
Which of the following neurological manifestations is associated with Type 1 “non-neuropathic” Gaucher Disease?
Which of the following investigations is NOT routinely recommended in the workup of patients with suspicion for, or confirmed diagnosis of, Gaucher Disease?
Early pulmonary involvement in Gaucher Disease is most accurately evaluated via:
Therapeutic goals of enzyme replacement therapy (ERT) in patients with Gaucher Disease include all of the following, EXCEPT:
Selection of disease directed therapy for patients with Gaucher Disease should be primarily driven by:
A 19-year-old female with Gaucher Disease type 3 presents with slowly progressing lower right abdominal pain and distension, postprandial gastrointestinal distress, mild edema in both ankles, and mild ascites. She has been continuously treated with enzyme replacement therapy since her GD3 diagnosis at 13-months old and is currently maintained on velaglucerase alfa. Abdominal CT reveals small bowel wall thickening with increased mucosal enhancement, obvious edema of the intestinal wall, and a large calcific cystic retroperitoneal mass at the mesentery base encasing the superior mesenteric vessels. Hypoalbuminemia at 26.4 g/L (35-45 g/L) confirms protein-losing enteropathy.
What is the most likely clinical diagnosis based on this presentation?
In addition to supportive multidisciplinary management, a reasonable treatment strategy for this patient would include:
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Manifestations of Gaucher Disease: Rare or Under-recognized?
2/23/2023 - 2/23/2024
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Live Event: 2/23/2023
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