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. 2017 Dec 27:14:73-79.
doi: 10.1016/j.ymgmr.2017.10.011. eCollection 2018 Mar.

Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey

Ida Vanessa D Schwartz  1   2 , Özlem Göker-Alpan  3 , Priya S Kishnani  4 , Ari Zimran  5 , Lydie Renault  6 , Zoya Panahloo  6 , Patrick Deegan  7 ; GOS Study group
Affiliations
Free PMC article

Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey

Ida Vanessa D Schwartz et al. Mol Genet Metab Rep. .
Free PMC article

Abstract

The Gaucher Outcome Survey (GOS) is an international disease-specific registry established in 2010 for patients with a confirmed diagnosis of Gaucher disease (GD), regardless of GD type or treatment status. Historically, there has been a limited understanding of type 3 GD (GD3) and its natural history in patients irrespective of their treatment status. Here, we describe the disease characteristics of patients with GD3 enrolled in GOS. As of October 2015, 1002 patients had been enrolled, 26 of whom were reported as GD3. The majority of patients with GD3 were from the US (13; 50.0%), seven (26.9%) were from the UK, three (11.5%) from Israel, and three (11.5%) from Brazil. No patients were of Ashkenazi Jewish origin. Median age of symptom onset was 1.4 (interquartile range: 0.5-2.0) years. The most common GBA1 mutation genotype was L444P/L444P, occurring in 16 (69.6%) of 23 patients who had genotyping information available. Nine patients reported a family history of GD (any type). Of 21 patients with treatment status information, 20 (95.2%) had received GD-specific treatment at any time, primarily imiglucerase (14 patients) and/or velaglucerase alfa (13 patients). Hemoglobin concentrations and platelet counts at GOS entry were within normal ranges for most patients, and there were no reports of severe hepatomegaly or of splenomegaly in non-splenectomized patients, most likely indicative of the effects of treatment received prior to GOS entry. This analysis provides information on the characteristics of patients with GD3 that could be used as the baseline for longitudinal follow-up of these patients.

Keywords: ERT, enzyme replacement therapy; Enzyme replacement therapy; GD, Gaucher disease; GD1, type 1 Gaucher disease; GD2, type 2 Gaucher disease; GD3, type 3 Gaucher disease; GOS, Gaucher Outcome Survey; Gaucher Outcome Survey; IQR, interquartile range; MN, multiples of normal; SRT, substrate reduction therapy; Type 3 Gaucher disease; Velaglucerase alfa.

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Figures

Fig. 1
Fig. 1
Overall GOS population at the time of data extraction (October 30, 2015). GD = Gaucher disease; GOS = Gaucher Outcome Survey.
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