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Management of patients with Gaucher disease: The era of choices
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Dr. Ari Zimran
Director, Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel


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Gaucher disease (GD) has been known for its great phenotypic heterogeneity, not only in the non--]neuronopathic type 1 but also with the neuronopathic forms (types 2 and 3).
The first description about Gaucher disease (GD) patient was in 9th century, however Glucoceberosidase deficiency was identified in 1965 and was found storage of glucocerebroside developed inflammations inducing cytokines. Now, more than 300 deferent mutations are identified.
GD is one of autosomal recessive disorder. Among Ashkenazi Jews, carrier frequency is 1:17 and expected birth frequency is 1:850. In Japan, lack of N370S mutation underlies this higher prevalence of neuropathic forms.
With the advent of enzyme replacement therapy (ERT) more than two decades ago, with by now 2 different substrate reduction therapies (SRTs), with an earlier diagnosis associated with greater disease awareness and even via various large-scale screening efforts, and with appreciation of the impact of co-morbidities and/or associated diseases, there has been further expansion of clinical trajectories that were not extant previously.
At the Shaare Zedek, total GD patient number is 781, type 1, 2, 3b and 3c of patient number is 754, 6, 5 and 16, respectively. The potential patient populations in Israel are thought to be over 3000. Now the number of patients who received ERT is over 350 in Israel and 2 received SRT of Eligulstat, however none of Migulstat.
Now five different types of ERT are available. However only Velagulserase alfa has the wild-type sequence, the efficacy of each ERT is almost similar examined by several biochemical or biotechnological researches. ERT has higher efficacy than SRT, however SRT has lower side effect such as upper abdominal pain or fatigability.
Conclusion and reccomendation
#1 Only Velagulserase alfa has the wild-type sequence. It is associated with fewer allergic reaction and fewer antibodies.
#2 Consider to switch those patients who require pre medication to prevent allergic reaction and those who have failed to achieve goals or treatment.
#3 SRT is inferior to ERT even high acceptance of Eligulstat.

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