Author:
De Vivo Antonio,Marconi Giovanni,Tumedei Nicola,Luicchini Elisa,Finazzi Maria Chiara,Burgo Ilaria Maria,Forni Gian Luca,Linari Silvia
Abstract
Gaucher disease (GD) is a rare genetic disorder characterized by glucocerebrosidase deficiency. Over 50% of patients with mild disease go undiagnosed, suggesting that GD diagnosis rates are still significantly low despite advancements in medical knowledge and diagnostic techniques. This guideline explores the potential settings in which patients with mild to moderate GD may present, providing professional guidance on diagnostic avenues and highlighting the necessity of raising awareness among medical professionals. Patients with undiagnosed GD may be seen in departments such as neurology, transfusion medicine, centers for hepatic disorders, orthopedics, hemostasis, thrombosis, benign and general hematology, and reference centers for these conditions. Therefore, for a timely diagnosis and appropriate management of this rare disorder, it is crucial that these specialties collaborate effectively and devise a path that avoids needless and invasive procedures.
Reference29 articles.
1. Pastores GM, Hughes DA. Gaucher Disease. GeneReviews®. 2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1269/ (accessed on October 8, 2023)
2. Alaei MR, Tabrizi A, Jafari N, Mozafari H. Gaucher disease: new expanded classification emphasizing neurological features. Iran J Child Neurol 2019;13:7-24.
3. Hughes D, Mikosch P, Belmatoug N, et al. Gaucher disease in bone: from pathophysiology to practice. J Bone Miner Res 2019;34:996-1013.
4. McCabe ERB, Fine BA, Golbus MS, et al. Gaucher Disease: Current Issues in Diagnosis and Treatment. JAMA 1996;275:548-53.
5. Simon G, Erdos M, Maródi L, Tóth J. Gaucher disease: The importance of early diagnosis and therapy. Orv Hetil 2008;149(:743-50.