Professor Maria Domenica Cappellini joined touchONCOLOGY at ASH 2018 to discuss haematologists' approach to Gaucher disease, focusing on the diagnosis and follow-up of this rare genetic condition. Professor Cappellini outlines the current issue of slow diagnosis times, and emphasises the importance of faster diagnosis in order to start treatment earlier and prevent disease-related complications, improving quality of life. She warns that, although rare, the rarity of the disease is not as expected as it is often under diagnosed, and that physician awareness, especially in haematologists, is the most important next step for the disease. Briefly, she discusses how it can be distinguished from other similar conditions and the most useful current diagnostic tests for Gaucher disease.
1. What is the average time to diagnosis in patients presenting with Gaucher disease type 1 and what is the impact of this on treatment? (0:10)
2. Why is diagnosis often delayed in patients with Gaucher disease? (1:55)
3. What symptoms should prompt the physician to suspect Gaucher disease? (0:10)
4. How can Gaucher disease be distinguished from clinically similar conditions such as other lysosomal storage disorders and haematological malignancies? (1:31)
5. What are the most useful diagnostic tests for Gaucher disease? (3:37)
Speaker's disclosures: Maria Domenica Cappellini has received honoraria for advisory boards from Novartis Pharmaceuticals, Sanofi Genzyme and Celgene.
Support: This video interview was supported by Sanofi Genzyme.
Filmed at the 60th American Society of Hematology (ASH) 2018 Annual Meeting, San Diego, CA, US, 1–4 December 2018