Speaking from the British Society for Hematology (BSH) 2018 Annual Scientific Meeting in Liverpool, UK, Derralyn Hughes, MA, DPhil, FRCP, FRCPath, of the Royal Free London NHS Foundation Trust, London, UK, talks about Gaucher disease (GD), a rare genetic disorder in which glucosylceramide accumulates in the organs. Dr Hughes explains how, despite affecting people of all ages, diagnosis of GD is often delayed for decades because of its rarity. Diagnosis and treatment of GD have both progressed in the last 20 years with enzyme transfusions as well as new oral medications available.
Diagnosing and treating Gaucher disease
