戈谢病(GD)表现出一系列的体征和症状。由于缺乏疾病意识,医生可能无法识别GD的早期阶段,这可能导致严重的诊断延迟,有时是不可逆转但可避免的发病率。
Gaucher早期诊断共识(GED-C)计划旨在识别被认为最能指示早期1型和3型GD的体征和共变量,帮助非专科医生识别可能从诊断测试中受益的“高危”患者。
匿名者,在由22名GD专家组成的全球小组中部署了三轮Delphi共识过程(平均经验17.5年,集体管理近3000名患者)。这些回合需要收集数据,然后重要性排名和建立共识,使用5点李克特量表和评分阈值定义先验。
对于1型疾病,七个主要迹象(脾肿大,血小板减少症,骨相关表现,贫血,高铁蛋白血症,肝肿大和丙种球蛋白病)和两个主要的共同变量(GD和Ashkenazi-Jewish血统的家族史)被确定。对于3型疾病,九个主要迹象(脾肿大,动眼神经紊乱,血小板减少症,癫痫,贫血,肝肿大,骨痛,运动障碍和脊柱后凸)和一个主要的共变量(GD家族史)。缺乏疾病意识,忽略轻度早期体征和未能将GD作为诊断鉴别被认为是早期诊断的主要障碍.
GED-C计划中确定的潜在指示早期GD的体征和共变量将有助于指导非专业人员,并提高他们的怀疑指数,以确定可能适合GD诊断测试的患者。
Gaucher disease (GD) presents with a range of signs and symptoms. Physicians can fail to recognise the early stages of GD owing to a lack of disease awareness, which can lead to significant diagnostic delays and sometimes irreversible but avoidable morbidities.
The Gaucher Earlier Diagnosis
Consensus (GED-C) initiative aimed to identify signs and co-variables considered most indicative of early type 1 and type 3 GD, to help non-specialists identify \'at-risk\' patients who may benefit from diagnostic testing.
An anonymous, three-round Delphi
consensus process was deployed among a global panel of 22 specialists in GD (median experience 17.5 years, collectively managing almost 3000 patients). The rounds entailed data gathering, then importance ranking and establishment of
consensus, using 5-point Likert scales and scoring thresholds defined a priori.
For type 1 disease, seven major signs (splenomegaly, thrombocytopenia, bone-related manifestations, anaemia, hyperferritinaemia, hepatomegaly and gammopathy) and two major co-variables (family history of GD and Ashkenazi-Jewish ancestry) were identified. For type 3 disease, nine major signs (splenomegaly, oculomotor disturbances, thrombocytopenia, epilepsy, anaemia, hepatomegaly, bone pain, motor disturbances and kyphosis) and one major co-variable (family history of GD) were identified. Lack of disease awareness, overlooking mild early signs and failure to consider GD as a diagnostic differential were considered major barriers to early diagnosis.
The signs and co-variables identified in the GED-C initiative as potentially indicative of early GD will help to guide non-specialists and raise their index of suspicion in identifying patients potentially suitable for diagnostic testing for GD.