Table 1 Clinical classifications of Gaucher disease
Type | Name | Dominant clinical manifestations | Predilections | Age of onset | Life expectancy | Treatment |
|---|---|---|---|---|---|---|
1 | Chronic, non-neuronopathic | Prominent visceral involvement Anemia, bleeding predilection Osseous manifestations (avascular necrosis, fracture) Growth impairment | N370S mutations Ashkenazi Jews | Variable (childhood-early adulthood) | Normal to almost-normal | ERT or SRT for symptomatic patients |
2 | Acute, neuronopathic | Severe neurological involvement (supranuclear gaze palsy, strabismus, opisthonus) Lung involvement | None | Neonatal-infantile | Poor (neonatal or infantile demise) | Supportive |
3 | Subacute-chronic, neuronopathic | Progressive neurologic involvement and cognitive deterioration (myoclonic seizures, supranuclear gaze palsy) Variable visceral involvement | L444P, D409H mutations Arab and Japanese populations | Variable (childhood-adulthood) | Shortened, variable (childhood-early/mid-adulthood) | ERT for visceral involvement |