Although enzyme replacement therapy is available for the non-neurological disease manifestations in both children and adults with Gaucher disease Type 3, it has little effect on the progressively downhill course of Gaucher disease Type 2.1 Common management challenges and suggestions for Gaucher disease Type 2 are highlighted in Table 1.4 Moreover, there is no evidence that enzyme replacement therapy can reverse, stabilise or slow the progression of neurological involvement in Gaucher disease Type 3, but by treating the severe visceral manifestations of the disease, treatment can enhance quality of life.1,5The availability of these treatments differs between countries. For further information, please consult your local prescribing information.
Patients or the families of those who are at high risk of or who have confirmed neuronopathic Gaucher disease may benefit from professional counselling, as this can improve quality of life and aid decision-making. It is recommended that counselling should be offered and made available to all families. For the parents and siblings of infants with Gaucher disease Type 2, counselling for decision-making for ‘end-of-life issues’, as well as bereavement counselling, should be provided. Patient or family organisations are also recognised as valuable sources of support and information for families, and it is recommended that all newly diagnosed patients should be directed to local and national Gaucher disease organisations.5