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Gaucher's disease: a review

L E Morales1

  • 1Pharmacy Department, Arkansas Children's Hospital, Little Rock 72202, USA.

The Annals of Pharmacotherapy
|April 1, 1996
PubMed
Summary

Enzyme replacement therapy effectively treats type 1 Gaucher's disease, improving quality of life. Doses of 60 units/kg every 2 weeks benefit patients with moderate to severe disease, though bone issues may take longer to resolve.

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Area of Science:

  • Biochemistry
  • Genetics
  • Internal Medicine

Background:

  • Gaucher's disease is the most common inherited lipid storage disorder, caused by glucocerebrosidase deficiency.
  • This deficiency leads to glucocerebroside accumulation in the reticuloendothelial system, causing hepatosplenomegaly, bone lesions, and anemia.
  • The disease has three subtypes: type 1 (non-neuronopathic) and types 2 and 3 (neuronopathic), with varying neurological involvement.

Purpose of the Study:

  • To review the epidemiology, pathophysiology, clinical features, diagnosis, and treatment of Gaucher's disease.
  • To focus on the efficacy and role of enzyme replacement therapy (ERT) in managing Gaucher's disease, particularly type 1.

Main Methods:

  • A comprehensive literature search of MEDLINE (1984-1995) and review of pertinent articles and tertiary sources.
  • Selection of articles focusing on enzyme treatment and other relevant aspects of Gaucher's disease and its management.

Main Results:

  • Enzyme replacement therapy with alglucerase and imiglucerase is available for Gaucher's disease.
  • A dosage of 60 units/kg every 2 weeks has shown effectiveness in reducing organomegaly and improving hematological parameters and growth in type 1 patients.
  • While ERT improves quality of life and general symptoms, bone disease response is slower, and its role in neuronopathic subtypes is still under investigation.

Conclusions:

  • Enzyme replacement therapy offers significant clinical benefits and improved quality of life for type 1 Gaucher's disease patients within the first year.
  • The established dosage of 60 units/kg every 2 weeks is clinically beneficial for moderate to severe cases.
  • Lower dosage regimens are being explored, with some showing satisfactory responses in certain patients.

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