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Abstract：
UNASSIGNED: Gaucher disease (GD) is a rare inherited multiorgan disorder, yet a diagnosis can be significantly delayed due to a broad spectrum of symptoms and lack of disease awareness. Recently, the prototype of a GD point-scoring system (PSS) was established by the Gaucher Earlier Diagnosis Consensus (GED-C) initiative, and more recently, validated in Gaucher patients in UK. In our study, the original GED-C PSS was tested in Finnish GD patients. Furthermore, the feasibility of point scoring large electronic health record (EHR) data set by data mining to identify potential undiagnosed GD cases was evaluated.
UNASSIGNED: This biobank study was conducted in collaboration with two Finnish biobanks. Five previously diagnosed Finnish GD patients and ~ 170,000 adult biobank subjects were included in the study. The original PSS was locally adjusted due to data availability issues and applied to the Finnish EHR data representing special health care recordings.
UNASSIGNED: All GD patients had high levels of the biomarker lyso-Gb1 and deleterious GBA mutations. One patient was a compound heterozygote with a novel variant, potentially pathogenic mutation. Finnish EHR data allowed the retrospective assessment of 27-30 of the 32 original GED-C signs/co-variables. Total point scores of GD patients were high but variable, 6-18.5 points per patient (based on the available data on 28-29 signs/co-variables per patient). All GD patients had been recorded with anaemia while only three patients had a record of splenomegaly. 0.72% of biobank subjects were assigned at least 6 points but none of these potential \"GD suspects\" had a point score as high as 18.5. Splenomegaly had been recorded for 0.25% of biobank subjects and was associated with variable point score distribution and co-occurring ICD-10 diagnoses.
UNASSIGNED: This study provides an indicative GED-C PSS score range for confirmed GD patients, also representing potential mild cases, and demonstrates the feasibility of scoring Finnish EHR data by data mining in order to screen for undiagnosed GD patients. Further prioritisation of the \"GD suspects\" with more developed algorithms and data-mining approaches is needed.
UNASSIGNED: This study was funded by Shire (now part of Takeda).
UNASSIGNED: This biobank study was conducted in collaboration with two Finnish biobanks. Five previously diagnosed Finnish GD patients and ~ 170,000 adult biobank subjects were included in the study. The original PSS was locally adjusted due to data availability issues and applied to the Finnish EHR data representing special health care recordings.
UNASSIGNED: All GD patients had high levels of the biomarker lyso-Gb1 and deleterious GBA mutations. One patient was a compound heterozygote with a novel variant, potentially pathogenic mutation. Finnish EHR data allowed the retrospective assessment of 27-30 of the 32 original GED-C signs/co-variables. Total point scores of GD patients were high but variable, 6-18.5 points per patient (based on the available data on 28-29 signs/co-variables per patient). All GD patients had been recorded with anaemia while only three patients had a record of splenomegaly. 0.72% of biobank subjects were assigned at least 6 points but none of these potential \"GD suspects\" had a point score as high as 18.5. Splenomegaly had been recorded for 0.25% of biobank subjects and was associated with variable point score distribution and co-occurring ICD-10 diagnoses.
UNASSIGNED: This study provides an indicative GED-C PSS score range for confirmed GD patients, also representing potential mild cases, and demonstrates the feasibility of scoring Finnish EHR data by data mining in order to screen for undiagnosed GD patients. Further prioritisation of the \"GD suspects\" with more developed algorithms and data-mining approaches is needed.
UNASSIGNED: This study was funded by Shire (now part of Takeda).
摘要：
■戈谢病（GD）是一种罕见的遗传性多器官疾病，然而，由于广泛的症状和缺乏疾病意识，诊断可能会显著延迟。最近,GD积分评分系统（PSS）的原型是由Gaucher早期诊断共识（GED-C）倡议建立的，最近，在英国Gaucher患者中验证。在我们的研究中,在芬兰GD患者中检测了原始GED-CPSS.此外，评估了通过数据挖掘对大型电子健康记录(EHR)数据集进行积分评分以识别潜在未确诊GD病例的可行性.
■这项生物库研究是与两家芬兰生物库合作进行的。该研究包括五名先前诊断的芬兰GD患者和约170,000名成人生物库受试者。由于数据可用性问题，对原始PSS进行了本地调整，并将其应用于代表特殊医疗保健记录的芬兰EHR数据。
■所有GD患者都有高水平的生物标志物lyso-Gb1和有害的GBA突变。一名患者是具有新变体的复合杂合子，潜在的致病突变。芬兰EHR数据允许对32个原始GED-C体征/共变量中的27-30个进行回顾性评估。GD患者的总分较高但存在差异，每个患者6-18.5分(基于每个患者28-29个体征/共变量的可用数据)。所有GD患者均有贫血记录，而只有三名患者有脾肿大记录。0.72％的生物库受试者被分配至少6分，但这些潜在的“GD嫌疑人”中没有一个得分高达18.5分。已经记录了0.25％的生物库受试者的脾肿大，并且与可变点得分分布和同时发生的ICD-10诊断相关。
■本研究为确诊的GD患者提供了指示性GED-CPSS评分范围，也代表潜在的轻度病例，并证明了通过数据挖掘对芬兰EHR数据进行评分以筛选未诊断的GD患者的可行性。需要使用更发达的算法和数据挖掘方法进一步确定“GD嫌疑人”的优先级。
■这项研究由Shire（现为武田的一部分）资助。
■这项生物库研究是与两家芬兰生物库合作进行的。该研究包括五名先前诊断的芬兰GD患者和约170,000名成人生物库受试者。由于数据可用性问题，对原始PSS进行了本地调整，并将其应用于代表特殊医疗保健记录的芬兰EHR数据。
■所有GD患者都有高水平的生物标志物lyso-Gb1和有害的GBA突变。一名患者是具有新变体的复合杂合子，潜在的致病突变。芬兰EHR数据允许对32个原始GED-C体征/共变量中的27-30个进行回顾性评估。GD患者的总分较高但存在差异，每个患者6-18.5分(基于每个患者28-29个体征/共变量的可用数据)。所有GD患者均有贫血记录，而只有三名患者有脾肿大记录。0.72％的生物库受试者被分配至少6分，但这些潜在的“GD嫌疑人”中没有一个得分高达18.5分。已经记录了0.25％的生物库受试者的脾肿大，并且与可变点得分分布和同时发生的ICD-10诊断相关。
■本研究为确诊的GD患者提供了指示性GED-CPSS评分范围，也代表潜在的轻度病例，并证明了通过数据挖掘对芬兰EHR数据进行评分以筛选未诊断的GD患者的可行性。需要使用更发达的算法和数据挖掘方法进一步确定“GD嫌疑人”的优先级。
■这项研究由Shire（现为武田的一部分）资助。
