Gaucher Disease is an inherited lipid storage disease often confused with a variety of haematological disorders by the physicians seeing the patients. The disease based on a mutated GBA genes and is characterised by the accumulation of glucosylceramide-laden macrophages in a variety of organs most notably of the reticuloendothelial system, leading to impairment of organ function and organ enlargement. Infiltration of the bone marrow can result in bone infarction which may manifest clinically as bone crises and result in irreversible damage. This latter consequence is a major irreversible consequence of uncontrolled GD and a major positive impact on quality of life of patients can be achieved by avoiding it. While central nervous system effects are traditionally thought to be associated with types 2 and 3 GD, GBA gene mutations are clearly associated with Parkinson disease. Awareness of the condition, its unique features and appropriate diagnostic approaches will increase the probability of timely diagnosis and institution of therapy before the development of irreversible complications.
Recent descriptions of the possible role of components of the inflammatory processes, in particular components of the complement pathway, means that a greater understanding of the genesis of the broad clinical spectrum of GD may continue to occur and new therapeutic targets may be uncovered.
Therapy for GD has been available for over 25 years in the form of enzyme replacement therapy and more recently, substrate reduction therapy. The promise of chaperone therapy particularly in neuronopathic disease is creating great expectations for the future.