type 1 Gaucher's disease

Last edited 02/2019

Gaucher's disease type 1 is the classic form of this condition, with the accumulation of glucocerebrosides limited to the mononuclear phagocytes throughout the body involving the splenic and skeletal systems. The brain is not involved.

Patients with this disorder have reduced levels of glucocerebrosidase activity.

It is found principally in Jews of European stock and accounts for at least 80% of all cases of Gaucher's disease.

• Gaucher disease (GD) is a lysosomal storage disorder (LSD) which is inherited as an autosomal recessive condition with an estimated birth frequency of 1:50,000 to 1:100,000 in the European population with a higher incidence of 1:500 to 1:1000 live births in the Ashkenazi Jewish population
  • the Gauchers Association in the UK report that in 2016 they knew of 310 people with Gaucher disease in the UK and Ireland (293 adults and children in Scotland England and Wales and 17 in all of Ireland)
    
    
• GD is caused by mutations of the GBA1 gene which encodes for the enzyme glucocerebrosidase. Reduced enzyme function results in the over storage of glucosylceramide in white blood cells known as macrophages that accumulate primarily in the bone marrow, liver, spleen, and secondarily in the lungs and brain
  • the different sites of accumulation result in multi-system disease and diverse clinical symptoms
  • tphenotypic presentation of the condition ranges from almost asymptomatic to severe, life-threatening and fatal
  • there are 3 different types of GD with type 1 affecting 95% of those diagnosed in Europe, the US and Canada
    
    
• Type 1 GD is the non-neuronopathic form of the condition with phenotypic presentation ranging from mild to severe and life threatening. The onset of symptoms may occur at any time from childhood into adulthood with people with identical mutations manifesting as variations in overall severity and organ involvement. Patients who present in early childhood generally go on to have more severe symptoms than those who present later in adulthood.

Lifespan is shortened but not markedly.