Top Factors to Diagnose Gaucher Disease

James Radke, PhD

Gaucher disease is a lysosomal storage disease whose onset can be slow and difficult to diagnose since the symptoms can be heterogeneous and often mimic other conditions.  To help clinicians think about Gaucher disease as a possible diagnosis, the global Gaucher earlier diagnosis consensus (GED-C) initiative was developed.
The overarching goal of the GED-C initiative is to generate a web-based point-scoring system that can be used by clinicians across specialties to facilitate identification of patients who may benefit from diagnostic testing for Gaucher disease.
To that end, the initiative asked a panel of expert physicians a series of open questions, including: “Which unexplained signs and co-variables may be important to consider in early type 1 GD?”
Based on those responses, the panel members were then asked to rate the importance of each factor  (1 = not important, 5 = extremely important) and then asked to rate their level of agreement (1 = strongly disagree; 3 = neither agree nor disagree; 5 = strongly agree). Consensus was defined as more than 67% of respondents agreeing or strongly agreeing (a score of ≥ 4) with the classification.


A total, 22 physicians with expertise in type 1 Gaucher disease came up with 104 phrases, which were consolidated as 21 factors. Subsequent questioning found 9 factors that were important to suspecting and diagnosing Gaucher disease.
Table 1. Top 9 Factors to Diagnose Gaucher Disease

Consensus Factors
Mean score
(% responding w/ rating >2)
Mean score
(% responding w/ rating >3)
Presenting Symptoms
   Bone Issues
Patient Co-variables
   Family history of Gaucher
   Jewish ancestry

4.8 (100%)
4.5 (95%)
4.0 (91%)
3.8 (95%)
3.5 (82%)
3.7 (95%)
3.2 (82%)
4.3 (95%)
3.9 (86%)
4.9 (100%)
4.7 (91%)
4.5 (91%)
4.0 (86%)
4.0 (86%)
4.0 (77%)
3.6 (73%)
4.5 (91%)
4.2 (86%)

The authors hope that presenting signs and patient co-variables identified by this multidisciplinary consensus initiative will help clinicians to identify Gaucher disease earlier.
The next stage of the GED-C initiative will be to use the factors identified here to create a point-scoring system that clinicians of any specialty can use to obtain clear direction regarding the need to test a patient for GD.


Kuter DJ, Salek S, Nehlta A. A Global Delphi Consensus Initiative for Early Diagnosis of Gaucher Disease: Key Presenting Signs and Patient Co-Variables in Type 1 Disease. Presented at the 58th Annual ASH Meeting & Exposition; San Diego, CA; December 3-6, 2016. Abstract 3676.
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