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Clinical consequences of interrupting enzyme replacement therapy in children with type 1 Gaucher disease

Guillermo Drelichman1, Elvira Ponce, Nora Basack

  • 1Department of Pediatric Hematology, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina. drgdrelichman@yahoo.com.ar <drgdrelichman@yahoo.com.ar>

The Journal of Pediatrics
|July 24, 2007
PubMed

Insights

Interrupting enzyme replacement therapy (ERT) for type 1 Gaucher disease in children can lead to recurrent organomegaly, growth delays, and bone issues. These problems may persist even after ERT is restarted.

Area of Science:

  • Pediatric Hematology
  • Lysosomal Storage Diseases
  • Genetic Disorders

Background:

  • Type 1 Gaucher disease is a rare genetic disorder.
  • Enzyme replacement therapy (ERT) is a standard treatment for Gaucher disease.
  • The long-term effects of ERT interruption in pediatric patients are not well-documented.

Purpose of the Study:

  • To evaluate the consequences of discontinuing enzyme replacement therapy (ERT) for a minimum of one year in children diagnosed with type 1 Gaucher disease.
  • To assess the reversibility of disease manifestations after ERT resumption.

Main Methods:

  • A retrospective study of children with type 1 Gaucher disease who suspended ERT for at least one year.
  • Monitoring of hemoglobin, platelet counts, organomegaly, growth parameters, and bone health before, during, and after ERT interruption.
  • Data collected from two pediatric treatment centers.

Main Results:

  • Five out of 32 children interrupted ERT. Initial ERT led to normalized growth, reduced organomegaly, and improved hematologic and skeletal features.
  • ERT interruption resulted in recurrence or worsening of splenomegaly (all patients), hepatomegaly and hematologic issues (4/5), severe bone manifestations (4/5), and growth retardation (3/5).
  • Following ERT resumption, residual hepatomegaly (2/4), splenomegaly (2/4), and persistent skeletal manifestations (4/4) were observed.

Conclusions:

  • ERT interruption in children with type 1 Gaucher disease is strongly discouraged.
  • Discontinuation of ERT can trigger relapses in organomegaly, growth impairment, and skeletal complications.
  • These complications may not fully resolve even after reinitiating ERT, highlighting the importance of treatment adherence.
Abstract

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