SULM – Schweizerische Union für Labormedizin | Union Suisse de Médecine de Laboratoire | Swiss Union of Laboratory Medicine

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C. Rüegg, E. Miloni, A. Popp, A.R. Huber

1Department of Laboratory Medicine Kantonsspital Aarau AG, Switzerland, 2Zeuhausgasse 12, Bern , 3Department of Radiology, University Hospital of Bern, Switzerland, 4Department of Laboratory Medicine Kantonsspital Aarau AG, Switzerland

INTRODUCTION: Gaucher disease (GD) is an autosomal recessive glycolipid storage disorder, caused by functional deficiency of the β-glucocerebrosidase, leading to accumulation of the glucocerebroside in monocytes and macrophages. Patients with GD present with hepatosplenomegaly, complex bone disease involving bone marrow and/or structural bone defects. Enzyme replacement therapy (ERT) with placental-derived preparation, algucerase, or the recombinant from, imiglucerase (Cerezyme), has proven to be safe and effective. Reduction in organ volumes, improvement of hematological parameters, and prevention of skeletal complications have improved quality of life of treated patients. However, due to the low prevalence of GD no detailed dose finding studies are available and the current standard dosing (30-120 U/kg/mth) is costly. We thus, aimed to evaluate response using a significantly reduced regimen (10 U/kg/mth). CLINICAL REPORT: A 43-yr-old patient originating from Italy with GD type 1 since childhood underwent splenectomy and orthopedic operations years ago and suffered at presentation on severe hematologic and osteogenic problems as well as on a progredient substantial hepatomegaly. Genotyping showed N370S/RecNcil genotype. An ERT with Cerezyme with 12 U/kg/mth was begun and continued for 5 years. A temporary reduction of the ERT to 6 U/kg/mth was increased again to 12 U/kg/mth because of worsening of hematological values. RESULTS: Clinical and hematological values showed rapid improvement. Hepatomegaly remained stable. The skeletal situation improved with the treatment and further orthopedic interventions were not necessary except a periprothetic fracturcorrection caused by an accident. CONCLUSION: This case demonstrates that a clinically equivalent successful treatment is possible also with reduced dosage of the ERT. Over the 5.5 years total medical costs of the ERT was reduced 90 % from sFr. 4000000.- to sFr. 400000.-.

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