Management of Gaucher Disease

The multisystemic, progressive and heterogeneous nature of Gaucher disease suggests a two-part approach to its management. First, patients should receive multidisciplinary attention, including consultation with specialists in this disorder as necessary.

Second, implementation of treatment and evaluation of the therapeutic response must be tailored to the individual patient. ^[1] To obtain an evidence-based consensus on contemporary therapeutic goals, an international panel of physicians with extensive clinical experience in Gaucher disease met to review the extensive literature on its treatment. The panel adopted an integrated system-based approach to arrive at a comprehensive guide to individualized management. These therapeutic goals were published in Seminars of Hematology 2004.

In parallel, the Belgian Working Group on Gaucher disease (BWGGD) has developed comprehensive guidelines for the diagnosis, treatment and monitoring of patients with Gaucher disease. These Guidelines are consistent with those of the international panel, but in addition provide a classification into mild, moderate or severe disease, linked to specific treatment and dose recommendations.

Prior to the introduction of enzyme replacement therapy (ERT) (see about Cerezyme®), a major focus of Gaucher disease management was symptom relief. Treatments included various pain reduction therapies, blood transfusions, orthopedic surgery for bone and joint involvement, and possibly splenectomy. ^[2] These measures now have a secondary place in the management of Gaucher disease. Despite its positive effects on hematological parameters, prevention of splenectomy has actually become a key goal of patient management, because it has been associated not only with general post-splenectomy events but also with more severe, potentially life-threatening disease progression in other organs like liver and lung.

References

1. Pastores et al. Therapeutic Goals in the treatment of Gaucher disease Seminars in Hematology 2004; Vol 41, N°4, (suppl 5):4-14

2. NIH Technology Assessment Panel on Gaucher Disease. Gaucher disease: current issues in diagnosis and treatment. JAMA. 1996;275:548-553.