Splenectomy may be indicated if there is either:
- thrombocytopaenia
- hypersplenism
- recurrent painful splenic infarction
- abdominal discomfort due to a greatly enlarged spleen
If there has been severe infiltration of the bone marrow such that there may be a threat to life then bone marrow transplantation is indicated.
The development of enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) have made GD treatable with the exception of the neurological deterioration associated with types 2 and 3
- ERT aims to replace the defective or missing enzyme with a functional protein that is infused into the bloodstream and taken up into cellular lysosomes
- ERT targets the underlying metabolic deficit rather than providing symptomatic management
- SRT targets the failure of the lysosomal metabolic pathway by inhibiting the production of glucosylceramide and thereby reducing its accumulation in the lysosomes and the likelihood of subsequent multi organ dysfunction
Reference:
- Solutions for Public Health, Screening for Gaucher Disease, A report for the UK National Screening Committee. December 2013
- UK National Screening Committee. Briefing note: Screening for Gaucher disease in newborns. June 2018