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Updated: Jul 7, 2026
07:45
An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
[Hematological aspects of Gaucher disease]
R Costello1, T O'Callaghan, V Baccini
1Département d'Hématologie, Assistance Publique des Hôpitaux de Marseille, Faculté de Médecine de Marseille, Université de la Méditerrané, Hôpital Nord, Chemin des Bourrelly, 13915 Marseille 20, France. regis.costello@free.fr
La Revue De Medecine Interne
|January 30, 2008
Summary
Gaucher disease, a lysosomal storage disorder, can lead to anemia and bone issues. Research suggests a non-fortuitous link between Gaucher disease and multiple myeloma, warranting further investigation into underlying mechanisms.
Area of Science:
- Hematology
- Genetics
- Oncology
Background:
- Gaucher disease is the most common lysosomal storage disorder, caused by glucocerebrosidase deficiency.
- Accumulation of glucocerebroside in bone marrow leads to cytopenia and bone lesions.
- Clinical presentation often includes anemia, thrombocytopenia, and splenomegaly.
Purpose of the Study:
- To highlight the diagnostic challenges in Gaucher disease, including potential pitfalls.
- To emphasize the hematologic improvements with enzyme replacement therapy.
- To discuss the significant association between Gaucher disease and multiple myeloma.
Main Methods:
- Literature review of reported cases and series.
- Analysis of clinical signs and diagnostic considerations.
- Exploration of potential physiopathological links between Gaucher disease and multiple myeloma.
Main Results:
- Hematologic parameters typically improve with enzyme replacement therapy.
- A non-fortuitous association between Gaucher disease and multiple myeloma is increasingly recognized.
- Immune network imbalance is a potential hypothesis for the observed association.
Conclusions:
- Hematologists play a key role in diagnosing Gaucher disease and must be aware of diagnostic traps.
- The association between Gaucher disease and multiple myeloma is significant and requires further research.
- Understanding the physiopathological links is crucial for future investigations.
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