Expert consensus guideline on the diagnosis of type 1 Gaucher disease in adult patients

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.

Keywords

• Glucocerebrosidase deficiency
• type 1 Gaucher disease
• GBA gene