12/05/2019
Gaucher disease type 3 in a nutshellGaucher disease type 3(GD3) was initially categorized as chronic neuropathic form of GD with a slowly progressive course. Neuronopathic Gaucher disease (GD 2 and GD3) is less common than GD1, estimated to occur in one in 100,000-300,000 births.1 GD3 approximately represents 5-14% of GD patients with a much higher prevalence in Asia and Egypt. GD 3 patients show wide phenotypic variability ranging from early onset of severe neurological manifestations, reminiscent of GD2, to late-onset neurological manifestations.2 Patients typically have marked visceral and hematological disease and some exhibit bone and lung disease and other rarer complications, such as cardiac.3
None of the currently available therapies, however, have been shown to be effective in treating the neuronopathic disease manifestations. ERT has the potential to lead to favourable outcomes by alleviating the visceral and haematological aspects of the disease and improving quality of life.1
A recent evaluation of a large paediatric GD3 cohort from the International Collaborative Gaucher Group Gaucher Registry provided clear evidence that imiglucerase ERT improved even severe haematologic and visceral manifestations in children and adolescents with GD3 within the first 5 years of treatment, and often after only 12 months.
In this cohort of 253 patients, 37 deaths occured over a median follow up period of 7.5 person-years. A Kaplan Meier analysis indicated the probability of surviving for at least 5 years after starting ERT was 92%, 10 years was 82% and 20 years was 76%. Therefore such potentially severely affected patients may gain benefit from ERT in respect to hematological and organ manifestations, and also growth, which may help them to lead productive lives.3
1. Nalysnyk L et al. Gaucher disease epidemiology and natural history: a comprehensive review of the literature. Hematology, 2016. http://dx.doi.org/10.1080/10245332.2016.1240391
2. Abdelwahab M, Blankenship D, Schiffmann R.Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt.
Neurol Genet. 2016 Feb 25;2(2):e55. doi: 10.1212/NXG.0000000000000055.
3. El-Beshlawy A et al. Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry. Mol Gen Metab. 2016. http://dx.doi.org/10.1016/j.ymgme.2016.12.001
(2017). Gaucher disease epidemiology and natural history: a comprehensive review of the literature. Hematology: Vol. 22, No. 2, pp. 65-73.