GD is a genetic disorder caused by a recessive mutation in the GBA gene located on chromosome 1. It is a rare disorder and patients with GD may present with a broad range of signs and symptoms. These may include enlarged spleen and liver, liver malfunction, skeletal disorders or bone lesions that may be painful, severe neurological complications, swelling of lymph nodes, anemia and low blood platelet count. Persons seriously affected may also be more susceptible to infection.
This platform will share information to support the care of patients with Gaucher Disease (GD).
It has been developed by the European GD Network, an EHA SWG GD Task Force, as a trusted online resource for everyone involved in the care of Gaucher Disease patients.
The content of the Platform is available for:
Hematologists, clinical nurse specialists and other healthcare professionals (HCPs).
GD patients, their family, friends, carers (care-givers) and GD patient advocacy groups.
Overview
The Key Facts
Early Diagnosis
GD is the most common lysosomal storage disorder. Early recognition and treatment remains an obstacle.
Misdiagnosis
Misdiagnosis and associated unrequired tests and procedures usually occur before a definitive diagnosis of GD has been made.
Treatment
Identifying the effective practices by an Expert Group of specialists in the treatment and care of GD is a priority.
