Improvement of splenomegaly and pancytopenia by enzyme replacement therapy against type 1 Gaucher disease: a report of sibling cases

Int J Hematol. 2001 Apr;73(3):356-62. doi: 10.1007/BF02981962.

Abstract

Gaucher disease is a genetic lipid storage disease and represents a potentially serious health problem. It arises from a deficiency of glucocerebrosidase activity with secondary accumulation of large quantities of glucocerebroside. Symptoms are usually multisystemic, often debilitating or disabling, and sometimes disfiguring, and they can lead to death. We report objective clinical response's to repeated infusion of human placental and recombinant glucocerebrosidase in 2 patients with type 1 Gaucher disease and increased hemoglobin levels and platelet counts. Splenic volume decreased during the period of enzyme administration. Enzyme replacement therapy has improved the treatment of type 1 Gaucher disease by safely and effectively arresting, decreasing, or normalizing many of its major signs and symptoms. Consideration by physicians must be given to Gaucher disease, and appropriate treatments must be given when confronted with cryptogenic pancytopenia or hepatosplenomegaly.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amino Acid Substitution
  • Consanguinity
  • DNA Mutational Analysis
  • Female
  • Gaucher Disease / classification
  • Gaucher Disease / complications
  • Gaucher Disease / drug therapy*
  • Gaucher Disease / genetics
  • Glucosylceramidase / administration & dosage
  • Glucosylceramidase / deficiency
  • Glucosylceramidase / genetics
  • Glucosylceramidase / therapeutic use*
  • Humans
  • Middle Aged
  • Mutation, Missense
  • Nuclear Family
  • Pancytopenia / drug therapy*
  • Pancytopenia / etiology
  • Pedigree
  • Recombinant Fusion Proteins / administration & dosage
  • Recombinant Fusion Proteins / therapeutic use
  • Splenomegaly / drug therapy*
  • Splenomegaly / etiology

Substances

  • Recombinant Fusion Proteins
  • Glucosylceramidase