Summary of European consensus guidelines for treatment of neuronopathic Gaucher disease

ERT

Indications:

Patients with chronic neuronopathic (type 3) GD*.

Siblings of patients with chronic neuronopathic GD who are proven to have GD.

Patients with the following high-risk genotypes:

L444P/L444P (c.1448T>C homozygote)

D409H/D409H (c.1342G>C homozygote)

L444P/D409H (c.1448T>C/c.1342G>C heterozygote)

Onset of severe systemic GD at ≤2 years of age.

Dose:

60 units/kg every 2 weeks^Δ, initiated as soon as possible after diagnosis or identification.

Duration:

Treatment with 60 units/kg every 2 weeks should be continued until the patient attains adulthood and clearly has mild GD and stable neurologic involvement. At this point a dose reduction (to as low as 30 units/kg every 2 weeks) may be considered.

Splenectomy:

Total splenectomy should be avoided if at all possible. Partial, rather than total, splenectomy should be considered if splenectomy is required in an emergency situation.

ERT: enzyme replacement therapy; GD: Gaucher disease.
* ERT is not recommended for patients with acute neuronopathic disease (type 2 GD). ERT for nonneuronopathic GD is reviewed separately.
Δ Higher doses may be necessary to control visceral disease.

Adapted from: Vellodi A, Bembi B, de Villemeur TB, et al. Management of neuronopathic Gaucher disease: a European consensus. J Inherit Metab Dis 2001; 24:319 and Vellodi A, Tylki-Szymanska A, Davies EH, et al. Management of neuronopathic Gaucher disease: Revised recommendations. J Inherit Metab Dis 2009; 32:660.

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Summary of European consensus guidelines for treatment of neuronopathic Gaucher disease