Key Facts

  • 01

    Early Recognition

    • This Online Gaucher Disease (GD) Platform has developed effective practices to help you care for your patients with GD.
    • GD is a rare, inherited and unique lysosomal storage disorder and how you manage the treatment of your GD patients is reflected in the significant individual differences associated with this disease.
    • One of the most significant issues in GD is misdiagnosis and associated unrequired tests and procedures which usually occur before a definitive diagnosis of GD has been made and before the start of appropriate therapy.
    • Although GD is the most common lysosomal storage disorder, it’s early recognition and treatment remains an obstacle.
    • For this reason, identifying the effective practices by an Expert Group of specialists in the treatment and care of GD is a priority.

  • 02

    Pre-Diagnosis

    A diagnosis of Gaucher Disease should be considered in individuals with enlargement of the spleen and liver (hepatosplenomegaly), bone abnormalities such as pain/fractures, with a tendency to bruising easily and unexplained anaemia

  • 03

    Diagnosis

    Diagnosis requires testing for acid beta-glucosidase activity using an enzyme assay test known as BGL (beta-glucosidase leukocyte) blood test and if required genetic testing via blood or saliva for mutations in the GBA gene. Genetic testing can also detect if someone is a carrier of Gaucher disease. Carriers do not have the disease, but they may pass the gene to their children.

  • 04

    Essential Care

    • Improve awareness of GD as a potential diagnosis and its clinical manifestations.
    • Educate primary and secondary care medical and nursing staff and other medical colleagues about GD; it’s complications and their management i.e. hepatosplenomegaly, bleeding, bone pain & fractures and other organ complications i.e. brain and lung involvement.
    • Educate clinicians that the timing and severity of symptoms vary greatly from patient to patient
    • Avoid any unnecessary procedures in trying to obtain a diagnosis; doctors currently mistake Gaucher Disease for other medical conditions or illnesses. As a result, people living with Gaucher Disease can undergo unnecessary diagnostic procedures and potentially harmful treatments aimed at other illnesses and diseases.
    • Encourage patients, their families and patient support groups to partner with healthcare providers in a more educated, informed state in order to help overcome diagnostic challenges.