Disease classification

Gaucher disease is usually classified into three types based on the absence (type 1) or presence (types 2 and 3) of neurological involvement: Grabowski GA, Petsko GA, Kolodny EH. Chapter 146: Gaucher disease. Valle D, Beaudet AL, Vogelstein B, et al, eds. The Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill; 2013. Accessed July 6, 2015.

  • Type 1 (non-neuronopathic) has a wide variation in its clinical manifestations, severity and course but is distinguished from the other two types by the absence of primary central nervous system involvement. Kaplan P, Baris H, De Meirleir L, Di Rocco M, El-Beshlawy A, Huemer M, Martins AM, Nascu I, Rohrbach M, Steinbach L, Cohen IJ. Revised recommendations for the management of Gaucher disease in children. Eur J Pediatr (2013) 172:447–458  In some people, symptoms begin early in childhood and get worse over time, whereas in others, first symptoms may only be noticed well into adulthood. Grabowski GA, Petsko GA, Kolodny EH. Chapter 146: Gaucher disease. Valle D, Beaudet AL, Vogelstein B, et al, eds. The Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill; 2013. Accessed July 6, 2015.
  • Type 2 (acute neuronopathic) is usually evident within the first few months of life and includes severe neurological symptoms. These children do not usually survive beyond 2 years of age. Gupta N, Oppenheim I, Kauvar E, Tayebi N, Sidransky E. Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity. Blood Cells Mol Dis 2011;46(1):75-84.
  • Type 3 (chronic neuronopathic) is characterised by slowly progressing neurological disease and can be confused with type 1 disease in its early stages. Patients who reach adolescence may live to adulthood. Grabowski GA, Petsko GA, Kolodny EH. Chapter 146: Gaucher disease. Valle D, Beaudet AL, Vogelstein B, et al, eds. The Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill; 2013. Accessed July 6, 2015.

Categorizing different types of Gaucher disease is valuable in terms of assessing management options and as a basis for genetic counselling, but there is growing consensus to view Gaucher disease as a phenotypic continuum with a spectrum of symptoms ranging from mild to severe neurological effects. Sidransky E. Gaucher disease: complexity in a “simple” disorder. Mol Genet Metab 2004;83(1-2):6-15.

 

Gaucher disease – a phenotypic continuum

Gaucher - disease continuum

The classic categories of types 1, 2 and 3 have blurred edges along the continuum of the disease. Adapted from Sidransky E, Gaucher disease: complexity in a "simple" disorder. Mol Genet Metab. 2004 Sep-Oct;83(1-2):6-15.