[Diagnosis and therapy of Gaucher disease]

Since 3 years there is an effective enzyme replacement therapy for patients with Gaucher's disease which is the most prevalent sphingolipid storage disease. Also the diagnostic procedures have recently been improved. This study reports about the results of longterm enzyme replacement therapy and the diagnostic workup in 18 patients with Gaucher's disease.

Since June 1991, 18 patients with moderate to severe degree of Gaucher's disease were treated by administration of modified human glucocerebrosidase on regular bases in the University Hospital Düsseldorf. According to the severity of the disease, glucocerebrosidase infusion was performed every 2 weeks. The dosage was individually chosen according to the severity of the disease.

Within 3 to 4 months all patients showed an improvement of laboratory findings, of hepatosplenomegaly and of their general well-being.

The advances in our understanding of this disease need to be publicized because an early diagnosis and timely enzyme replacement guarantees almost all patients with the adult type of Gaucher's disease to live a normal life without complaints and complications.