Criteria for the use of enzyme replacement therapy with Imiglucerase - one or more of the following:
(1) pulmonary involvement
(2) growth retardation (reduced height or weight for age) AND clinical malnutrition
(3) persistent or increasing autoimmune disease
(4) a sibling with a rapid acceleration in the course of the disease
(5) clinical onset at < 5 years of age
(6) splenomegaly with hypersplenism and pancytopenia lasting >= 3 months
(7) hepatomegaly with abnormal liver function tests
(8) symptomatic anemia due to bone marrow involvement (not due to iron deficiency or other identifiable cause)
(9) thrombocytopenia with bleeding AND/OR declining counts
(10) bone involvement with bone pain, spinal compression and/or other serious finding
(11) molecular diagnosis of a severe genotype (except homozygosity for N370S) AND symptomatic
where:
• Pancytopenia involves leukopenia (WBC < 3,000 per µL), anemia (hemoglobin < 9 g/dL), and thrombocytopenia (< 50,000 per µL)
