Laney Dawn A, Banks Kayla A, Botha Eleanor G, Keever Maria, Long Valynne, Foley Allison L
Department of Human Genetics, Emory University, Atlanta, GA, USA.
Parent-Project Muscular Dystrophy, Washington, DC, USA.
Orphanet J Rare Dis. 2025 Jan 14;20(1):23. doi: 10.1186/s13023-024-03425-1.
Late-onset Pompe disease (LOPD) is an autosomal recessive lysosomal storage disorder that results in severe progressive proximal muscle weakness. Over time, reductions in muscle strength result in respiratory failure and a loss of ambulation. Delayed diagnosis of LOPD deprives patients of treatments that can enhance quality of life and potentially slow disease progression. The objective of this study is to determine if patients with a nonspecific diagnosis, such as muscle weakness, may be at risk for LOPD using retrospective chart review of patients seen at two centers: an academic center and a community health system.
Initial data pulls identified 80,070 patients with one of the ICD-10 codes of interest. Chart review found 551 of these patients also had at least one lab value commonly abnormal in individuals with LOPD and of these 110 scored as "at-risk". After removing phenocopies/other confirmed unrelated diagnoses, 46 individuals were contacted either directly or through their healthcare provider for genetic counseling. Three patients had pretest genetic counseling and were tested for decreased levels of acid-α-glucosidase. One patient was found to have deficient acid-α-glucosidase. Additionally, a physician educated through the program ordered LOPD testing for their patient and diagnosed them with LOPD.
This study confirms that a symptom-based scoring tool and chart review combined with provider education can identify patients who are at increased likelihood to have a missed LOPD diagnosis.
晚发型庞贝病（LOPD）是一种常染色体隐性溶酶体贮积症，会导致严重的进行性近端肌无力。随着时间的推移，肌肉力量下降会导致呼吸衰竭和无法行走。LOPD的延迟诊断使患者无法获得可提高生活质量并可能减缓疾病进展的治疗。本研究的目的是通过对在两个中心（一个学术中心和一个社区卫生系统）就诊的患者进行回顾性病历审查，确定非特异性诊断（如肌无力）的患者是否有患LOPD的风险。
初步数据提取确定了80,070名患有相关ICD-10编码之一的患者。病历审查发现，这些患者中有551人至少有一项在LOPD患者中常见的实验室值异常，其中110人被列为“高危”。在排除拟表型/其他已确诊的无关诊断后，直接或通过其医疗服务提供者联系了46人进行遗传咨询。三名患者接受了检测前遗传咨询，并检测了酸性α-葡萄糖苷酶水平降低的情况。一名患者被发现酸性α-葡萄糖苷酶缺乏。此外，一名通过该项目接受培训的医生为其患者安排了LOPD检测，并诊断其患有LOPD。
本研究证实，基于症状的评分工具、病历审查与医疗服务提供者教育相结合，可以识别出漏诊LOPD可能性增加的患者。
