Table 5.

Indications for Initiating Enzymes Replacement Therapy in Symptomatic Children (Modified from Kaplan, et al⁶⁹).

One or more of the following

•Severe anemia (Hb < 8 g/dl) (rule out iron and vit. B12 deficiency) •Severe thrombocytopenia (<60 × 103 cells/mm3) •Leukocyte count <3 × 103 cells/mm3 •Spleen volume >2.0 MN and liver volume of >2.0 MN •Symptomatic or active bone disease on imaging •Growth retardation •Pubertal delay •Sibling with severe disease requiring enzymes replacement therapy •Genotype known to cause severe disease (e.g. presence of L444P or D409H mutations) •Height <5th percentile or significantly decreased growth velocity •BMD Z-score below—2.0

Along with lifelong commitment to financial commitment for the drug

Hb: Hemoglobin, MN: multiples of normal, BMD: Bone mineral density.