Eduard Veseliny, Peter Jarčuška, Anna Hlavatá, Jana Šaligová, Martin Janíčko
Gaucher disease (GD) is an autosomal recessive metabolic disease which is caused by the defective activity of the lysosomal enzyme, β-glucocerebrosidase, leading to accumulation of glucosylceramide and other glycolipids within the lysosomes of macrophages. Clinicians should be aware of this rare but potentially treatable disease in patients who present with unexplained organomegaly (usually massive splenomegaly, hepatomegaly), thrombocytopenia, anemia, and some skeletal complications. The treatment options for adult type GD include enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). Future treatment options are gene therapy and enzyme enhancement therapy by chemical chaperones. We present two cases of patients with GD type 1 who were treated by ERT with excellent clinical outcome. On behalf of our personal clinical experience we might judge that ERT is very effective, very well tolerated, and highly safe therapy of GD. The one disadvantage is very big financial burden.