Gaucher disease Type 2 and Gaucher disease Type 3 are considered the neuronopathic forms of the disease, and treating the neurological manifestations of the disease can be difficult.1 In addition to clinical and laboratory monitoring and diagnostic imaging of the haematological and visceral disease manifestations, it is recommended that patients undergo neurological examinations, such as neuro-ophthalmological and cognitive performance tests.2,3
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.1,5 The 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
Suggestions for clinical management of the common symptoms of Gaucher disease Type 2. Reproduced with permission from Weiss K et al. Mol Genet Metab 2015; 114: 110-112.4
C-ANPROM/INT//7568; Date of preparation: September 2020
- Roshan Lal T, Sidransky E. The spectrum of neurological manifestations associated with Gaucher disease. Diseases (Basel, Switzerland) 2017; 5: 10.
- Haute Autorité de Santé. Gaucher disease: national diagnosis and treatment protocol. January 2007. Available at https://www.has-sante.fr/upload/docs/application/pdf/ven_gaucher_web.pdf. Accessed September 2020.
- German Society for Child and Youth Medicine Working Group on Pediatric Metabolic Disorders. Gaucher's disease guidelines. March 2006. Available at https://www.ggd-ev.de/wp-content/uploads/mgaucher-22-12-2007.pdf. Accessed September 2020.
- Weiss K, Gonzalez A, Lopez G, et al. The clinical management of Type 2 Gaucher disease. Mol Genet Metab 2015; 114: 110-122.
- Vellodi A, Tylki-Szymanska A, Davies EH, et al. Management of neuronopathic Gaucher disease: revised recommendations. J Inherit Metab Dis 2009; 32: 660-664.