A study to identify individuals at risk to be affected with late-onset Pompe disease with previous non-specific diagnoses

Keever, Maria; Botha, Eleanor G.; Lisi, Emily C.; Laney, Dawn A.; Harrison, Taylor; Li, Hong

doi:10.1016/j.ymgme.2014.12.129

Cited by 1 publication

(2 citation statements)

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“…Preisler et al selected participants that had elevated creatine kinase, unexplained myopathy on muscle biopsy, unexplained respiratory insu ciency, or unspeci ed myopathy. In 2013, Keever et al completed a retrospective chart review looking for patients with undetected LOPD using the ICD-9 code code 359.1 in a neuromuscular center at Emory Healthcare (14). They identi ed 637 patients that led to the genetic counseling and testing of 23 subjects.…”

Section: Introductionmentioning

confidence: 99%

“…They identi ed 637 patients that led to the genetic counseling and testing of 23 subjects. In the end, 2 patients and several additional family members (1 sibling and 2 children) were diagnosed with LOPD (14). In 2023, a group in Spain took a slightly different approach by reviewing all adult internal medicine patients seen in 13 hospitals who presented with: polymyositis or any type of myopathy of unknown etiology; diagnosis of obstructive sleep apnea syndrome by polysomnography together with a body mass index (BMI) ≤ 30 kg/m 2 ; asymptomatic or pauci-symptomatic elevated creatine kinase.…”

Section: Introductionmentioning

confidence: 99%

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A Study to Identify Individuals At Risk To Be Affected By Pompe Disease Who Had PrevioUsly Been Given a Non-Specific OR Tentative DiagnosiS For Their MUsclEWeakness (Pompe PURSUE)

Laney,

Banks,

Botha

et al. 2024

Preprint

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Background 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 have LOPD using retrospective chart review of patients seen at two centers: an academic center and a community health system. Results 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. Conclusion This study confirms that a symptom-based scoring system and chart review combined with provider education can identify patients who are at increased likelihood to have a missed LOPD diagnosis.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%