Volumen: 19 # Number : Número Extraordinario
Publication Date : Diciembre Year: 2015
Authors: Drelichman G.; Fernández Escobar N.; Basack N.; Aversa L.;
Aguilar G.; Larroudé MS.; Watman N.; Bolesina M.;
Kohan R.; Elena G.; Veber SE.; Dragosky M.; Márquez M.;
Feliú A.; Sciuccati G.; Cuello MF.; Fynn A.; Aznar M.;
Guelbert NB.; Oliveri B.; Schenone AB.; Reichel P.; Ruiz A.;
Chain JJ.; Arizo A.; Bietti J.; Barr D.; Zirone S.;
Bacciedoni V.; Del Río F.; Cédola A.; Gatto E.; Echeverry J.;
Borchichi S.; Schweri M.; Aggio M.; Kisinovsky I.;
Fernández V.; Rozenfeld P.; Soberon B.; Lezscano A.;
Núñez G.; Baduel C.; Fernández Sasso D.; Diez B.
Abstract: Gaucher disease (GD) is a chronic, progressive and
multisystemic disease. The diagnosis of GD must
be established by enzyme analysis, acid β-glucosidase
(GCase) activity. This determination is essential
for diagnosis and relevant before initiating
treatment with enzyme replacement therapy (ERT).
Bone marrow biopsy (BM) and/or liver biopsy are
not necessary for diagnosis purpose, the presence
of Gaucher cells may guide to a suspicion but does
not replace the need to determine enzyme activity.
ERT is the current standard treatment for GD type 1
patients. It has significantly improved the quality of
life of these patients.
Treatment is lifelong. Marking therapeutic goals
(TG) encourages compliance and minimizes treatment
interruptions. TG are used to monitor the response
to treatment.
The achievement of TG is used to evaluate adjustments
in the therapeutic regimen. Dosage adjustments
should only be considered when the TG have
been achieved and maintained. When a TG is lost
one must rule out other causes other than treatment
failure as: irregular adherence to treatment, inadequate
dosing of ERT or the possibility of an associated
pathology that could be affecting the monitoring
tests. Individualized dose ERT regimen and
the follow up with a multidisciplinary team is most
efficient and best cost-benefit ratio method to improve
the health of patients with GD type 1. This
consensus represents the evaluation of current scientific
information and will be reviewed and analyzed
periodically.
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