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A Global Consensus Initiative Should Help Identify Patients Who Would Benefit from Diagnostic Testing for Gaucher Disease

March 10, 2017-Hong Kong, China — Presenting signs and patient covariablesidentified by a multidisciplinary consensus initiative will help clinicians identify patientswho may benefit from diagnostic testing for Gaucher disease.

The compilation of signs of and key variables involved in the early identification ofGaucher disease was described by David J. Kuter, MD, DPhil, of Massachusetts GeneralHospital, Boston. Dr Kuter spoke at the 58th Annual Meeting of the American Society ofHematology, from December 3 – 6.

Dr Kuter explained that Gaucher disease is associated with a broad spectrum of signs andsymptoms, with phenotypes ranging from fatal perinatal to asymptomatic adult forms.

Given the heterogeneous presentation and rarity of the disease, misdiagnosis is commonand diagnosis is often delayed. Misdiagnosis and delay in diagnosis can lead to avoidablemorbidities and potentially irreversible tissue damage.

Among the three phenotypes of Gaucher disease, type 1 is the most prevalent in thewestern hemisphere.

As part of the global Gaucher Earlier Diagnosis Consensus initiative, Dr Kuter reportedthe signs and patient covariables regarded by expert physicians as most indicative of type1 Gaucher disease in its early stages.

The overarching goal of the Gaucher Earlier Diagnosis Consensus initiative is to generatea web-based point-scoring system that can be used by clinicians across specialties tofacilitate identification of patients who may benefit from diagnostic testing for Gaucherdisease.

Dr Kuter said, “We undertook this study because we are concerned that some patientswith Gaucher disease may be undiagnosed or receive a delayed diagnosis, especiallypatients who present to physicians unfamiliar with this rare disorder.”

He added, “Since definitive testing is available to confirm a diagnosis, it is important to guide physicians as to which patients should receive these tests. Such guidance isparticularly important in regions where testing may be limited or expensive.”

In an anonymous iterative Delphi process, a panel of expert physicians was asked toprovide free text answers to a series of open questions including: “Which unexplainedsigns and covariables may be important to consider in early type 1 Gaucher disease?” An
independent facilitator categorised responses from round 1 into themes, which werechecked and consolidated by the two nonvoting cochairs of the initiative to generate a setof summary factors.

In round 2, panel members independently rated the importance of each factor using afive-point Likert scale (1 = not important, 5 = extremely important). Factors assigned animportance score of at least three by more than 75% of respondents were provisionallyclassified as major; other factors were classified as minor.

In round 3, panel members rated their level of agreement with the provisionalclassification of factors as major using a five-point pivoted Likert scale (1 = stronglydisagree; 3 = neither agree nor disagree; 5 = strongly agree).

Consensus was defined as more than 67% of respondents agreeing or strongly agreeing(score of ≥ 4) with the classification. If consensus was not reached, factors wereclassified as minor.

Twenty-two physicians with expertise in type 1 Gaucher disease were recruited to theGaucher Earlier Diagnosis Consensus panel from 16 countries.

Round 1 (100% response, n = 22) yielded 104 phrases, which were grouped into 38themes, then consolidated as 21 factors.

In round 2 (100% response, n=22), 10 factors were provisionally classified as major.

In round 3 (100% response, n=22), consensus was reached on nine major factors in earlytype 1 Gaucher disease, including seven presenting signs and two patient covariables.Minor factors included asthenia, bleeding or bruising, dyslipidaemia, fatigue, gallstones,growth retardation, low bone mineral density, and family history of Parkinson disease.

Dr Kuter concluded that definitive diagnostic tests for Gaucher disease have beenavailable for several years, yet patient referral for testing is impeded by several issues,including a general lack of knowledge among clinicians of the signs and covariables thatshould arouse suspicion of Gaucher disease.

Presenting signs and patient covariables identified by a multidisciplinary consensusinitiative will help clinicians identify patients who may benefit from diagnostic testing forGaucher disease. Several algorithms were devised with the aim of facilitating Gaucherdisease diagnosis, but these may be perceived as complex by the nonspecialist.

The next stage of the Gaucher Earlier Diagnosis Consensus initiative will be to use theidentified factors to create a point-scoring system that clinicians of any specialty can useto obtain clear direction regarding the need to test a patient for Gaucher disease.

“Our results have guided us to appreciate,” said Dr Kuter, “that a limited number ofdisease signs and symptoms are characteristic of early Gaucher disease. From these, weintend to create a scoring scheme to indicate which patients would benefit from beingtested for Gaucher disease."

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