30-minute live Web conference, available July 21 and July 22, 2010.

Gaucher disease (GD) is an autosomal recessive metabolic lipid storage disorder that results in devastating medical complications if undiagnosed or diagnosed late. Clinical presentation of GD varies greatly because of the heterozygous nature of the condition, however, it often presents as anemia, peripheral blood cytopenias, hematologic abnormalities due to hypersplenism, skeletal disease, and massive splenomegaly or hepatomegaly of unknown cause. Newer treatment options for GD include small molecules that penetrate tissues that are not accessible by enzyme replacement therapy (ERT). Several clinical studies have demonstrated the beneficial effects of miglustat on manifestations of GD1, showing significant reduction of liver and spleen volumes and increased platelet and hemoglobin levels in patients who were either naive to or had discontinued ERT.

Specialists stated that only 20% considered GD in the differential diagnosis for all of its classic symptoms (ie, cytopenia, hepatosplenomegaly, bone pain), suggesting that there is great need for education to increase the likelihood of prompt detection of GD and improve its management.

Intended for clinical geneticists and other medical genetics specialists interested in the management and treatment of type 1 Gaucher disease, this activity will enable recognition of the signs and symptoms of type 1 Gaucher disease, analyze available treatment options and provide appropriate therapy and monitoring based on individual patient needs, and evaluate and apply expert panel-defined goals to the treatment of type 1 Gaucher disease.