Protocols - Hemorio

CLINICAL AND LABORATORIAL FOLLOW-UP ROUTINE
- TO DIAGNOSIS: beta-glycosidase dosage, chitotriosidase (biomarkers) dosage, DNA study, skeleton
x-rays (lumbar, spine, chest, sacro-iliac, hip panorama, femoral and femurs), total abdomen ultrasound,
complete blood count and biochemistry* (*urea, creatinine, TGO, TGP, alkaline phosphatase,
GGT,BTF, PTF, glucose, ferritin, calcium), clotting and serology studies. It is recommended to perform
bone densitometry and MRI of lumbar spine, hips and femur in adults.
- First 2 years of treatment: monthly medical evaluation, complete blood count and biochemistry* every
3 months, total abdomen ultra-sound every 6 months, annual bone evaluation and serology. Annual
repetition of chitotriosidase dosage.
- After 2 years of treatment: quarterly medical evaluation, complete blood count and biochemistry*
every 3/6 months, total abdomen ultra-sound every 6m/1year, annual bone evaluation and serology.
Repetition of chitotriosidase dosage every two years. Evaluate repetition of MRI and densitometry of
lumbar spine, hip and femurs every 2 years for adults.
- Patients without treatment indication: medical evaluation, complete blood count and biochemistry*,
every 3/6 months, total abdomen ultra-sound every 6 months, annual bone inventory. It is
recommended to perform bone densitometry and, if possible, MRI of lumbar spine, hips and femurs.
- Other tests in specific situations: electrophoresis of proteins and immunoglobulin dosage, B12
vitamin dosage, bidimensional echocardiography with Doppler, anti-imiglucerase antibody dosage
before starting enzyme replacement, specific IGE dosage for imiglucerase in cases of reactions to the
drug, x-rays of other sites having pain crisis.
- Patients with GD type III: brain MRI, evoked potential, electroencephalography, follow-up with a
neurologist.
ENZYMATIC REPLACEMENT TREATMENT (ERT)
ADMINISTRATION: The enzyme is reconstituted in sterile water for injection, diluted in 100-200 ml of
saline solution 0.9% and endovenous infusion in 1-2 hours, every 14/14 days (or 15/15 days). Doses are
calculated individually, by U/Kg of patient’s weight. Administration during pregnancy must be evaluated
according to risk x benefit.
INITIAL DOSE AND MAINTENANCE:
Patients Initial Dose When does the dose should be
changed?
GD type I
Adults and children
without severe disease
GD type I
Adults and children with
severe disease
GD type III
30 U/kg
60 U/Kg
60 – 120U/kg
(bimonthly)
After normalization of criteria
which lead to the beginning of the
treatment
84
After 24 months, if there is any
normalization of beginning of
treatment criteria
Maintenance Dose
Children: 30U/Kg
Stable Adults: 20 up to 15U/Kg
30 U/Kg
For treatment failure we suggest weekly infusion