Progression and prognosis

Type 1 disease is marked by a wide phenotypic diversity and variability. Age of onset and diagnosis also differs widely between individuals, although at birth infants are non-symptomatic. In severe cases organomegaly may be evident after the first year. Adult disease is often noted by very slow disease progression. However, these individuals require careful and thorough evaluations, as one cannot rule out the possibility of severe bone disease when hematological/visceral manifestations are not obviously present. Life expectancy has been reported to be reduced by approximately 9 years versus a general population. 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.

Weinreb NJ, Deegan P, Kacena KA, et al. Life expectancy in Gaucher disease type 1. Am J Hematol. 2008 Dec;83(12):896-900.

Type 2 disease has a severe prognosis with early death due to worsening neurological symptoms. Overall clinical course is homogeneous although there is some heterogeneity, particularly in age of onset, although most infants die within the first 2 years of life. 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 3 disease includes moderate to severe neuronopathic symptoms that usually begin in childhood and progress slowly. 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.