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RESPONSE TO ENZYME REPLACEMENT THERAPY IN PATIENTS WITH GAUCHER DISEASE TYPE I

Background: Gaucher disease (GD) is an autosomal recessive disorder with abnormality in the degradation of the lipid glucocerebroside due to deficiency of the enzyme glucocerebrosidase which is a normal part of the cell membrane. This cause Specific lipid to build up in the liver, spleen, bone marrow and nervous system, interfering with normal function. Aim of study: To assess of response to enzyme replacement therapy (ERT) imiglucerase in patients with type 1 GD, over one year of treatment. Patients and methods: prospective, retrospective, cross sectional study of 25 patients diagnosed as GD type 1, patients completed one year course of treatment. And the assessment of response to imiglucerase were assessed by serial measurement of hematological and growth parameters, liver and spleen size, and bone symptoms. Results: the total number of the studied patient was twenty five , male to female ratio 1.27:1. The mean age at current study was 7.01±4.34 years. Abdominal distention and hepatosplenomegaly were present in all patients. Hemoglobin level increased in 80% of patients and returned to normal in 62.5% of anemic patients. Platelets count increased in (68%) of patients and returned to normal in (50%) of thrombocytopenic patients. The leukocytes increased in (52%) of patients. The weight and height were increased in 95% of patients and returned to normal in (30%), (7.6) of patients respectively. Reduction in the liver sizes were in 84% and returned to normal in 44% of patients while reduction in the spleen sizes were in 83% and returned to normal in 30% of patients. The bone pain and bleeding tendency (bruising, epistaxis) were completely resolved. No patients developed complications or reported death during the study period. Conclusion: GD is under diagnosed in Iraq. Early diagnosis and treatment using ERT is important to prevent complications and reversal of organomegaly hematological and skeletal manifestations without side effect and improve the quality of life especially in patients with family history of previous siblings’ death.