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Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen
Gepke Visser1, Jan Peter Rake, Philippe Labrune
1Beatrix Children's Hospital, University Hospital, Groningen, The Netherlands. g.visser@oprit.rug.nl
Insights
Granulocyte colony-stimulating factor (GCSF) improved neutrophil counts and reduced infections in glycogen storage disease type 1b (GSD-1b) patients. GCSF also subjectively improved inflammatory bowel disease (IBD) symptoms, though splenomegaly was a noted complication.
Area of Science:
- Hematology
- Pediatric Endocrinology
- Immunology
Background:
- Glycogen storage disease type 1b (GSD-1b) is characterized by neutropenia and neutrophil dysfunction, leading to recurrent infections and inflammatory bowel disease (IBD).
- Granulocyte colony-stimulating factor (GCSF) is utilized to manage these complications in GSD-1b patients.
Purpose of the Study:
- To investigate the efficacy and value of GCSF treatment in patients with GSD-1b.
- To assess the impact of GCSF on hematological parameters, infection rates, and IBD severity in GSD-1b.
Main Methods:
- A retrospective registry study of GSD-1 patients born between 1960 and 1995 across 12 European countries.
- Inclusion of 57 GSD-1b patients, with 18 receiving unglycosylated GCSF at a median age of 8 years.
- Analysis of treatment duration, dosage, frequency, and correlation with hematological counts, infection, and IBD severity.
Main Results:
- In untreated GSD-1b patients, hemoglobin, platelet, and leukocyte counts decreased with age, while neutrophil counts remained stable but low.
- GCSF treatment in nine patients for over a year significantly increased median neutrophil counts.
- Leukocyte and platelet counts significantly decreased during GCSF therapy.
- Treated patients experienced a reduction in infection frequency and severity, and subjective improvement in IBD.
Conclusions:
- GCSF demonstrated a significant hematological effect and subjective improvement in infections and IBD in GSD-1b patients.
- Marked splenomegaly was observed as a complication in four patients receiving GCSF.
- Prospective controlled trials are warranted to clarify the indications for GCSF use in GSD-1b.
Unlabelled:
Patients with glycogen storage disease type 1b (GSD-1b) have neutropenia and neutrophil dysfunction that predispose to frequent infections and inflammatory bowel disease (IBD), for which granulocyte colony-stimulating factor (GCSF) is given. To investigate the use and the value of GCSF treatment in GSD-1b, a retrospective registry of GSD-1 patients born between 1960 and 1995 in 12 European countries was established. Included were 57 GSD-1b patients. Unglycosylated GCSF was given to 18 patients, median age of starting therapy was 8 years, longest duration of therapy 7 years. Dose varied between 2-10 micro g/kg, with a frequency from daily to twice per week. Neutropenia (defined as an absolute neutrophil count <0.5 x 10(9)/l) was found in 49 patients. In untreated patients, a significant decrease of haemoglobin, platelet counts and leucocyte counts with increasing age ( P<0.032, P<0.04 and P<0.001 respectively) was noted, whereas neutrophil counts remained low but stable with increasing age. In nine patients who were treated longer than 1 year, median neutrophil counts increased significantly and simultaneously median leucocyte counts and platelet counts decreased significantly. In all patients treated, the number and severity of infections decreased and the severity of IBD improved subjectively. The most serious complication of GCSF treatment was marked splenomegaly (four patients).
Conclusion:
in this retrospective study a significant haematological effect was documented and a subjective improvement of infections and inflammatory bowel disease. In view of the uncertainty, prospective controlled trials seem warranted to clarify the indication for the use of granulocyte colony-stimulating factor in this disease.