title: Timing of diagnosis of patients with Pompe disease: data from the Pompe registry.
abstract: Diagnostic delays in Pompe disease are common. The diagnostic gap (the time from the onset of symptoms to the diagnosis of Pompe disease) and factors associated with diagnostic delays were examined among Pompe Registry patients in three onset categories: Group A, onset ≤12 months of age with cardiomyopathy; Group B, onset ≤12 months without cardiomyopathy and onset >12 months to ≤12 years; and Group C, onset >12 years. Of 1,003 patients, 647 were available for analysis. In all groups, musculoskeletal signs and symptoms were among the most frequent presenting signs and symptoms, in addition to cardiomyopathy in Group A, which was part of the group's definition. Diagnostic gaps existed in all three groups. Patients presenting with respiratory and musculoskeletal signs and symptoms concurrently had the shortest diagnostic gap, while those presenting with neither respiratory nor musculoskeletal signs and symptoms had the longest. Independent factors influencing the probability of a long diagnostic gap included presenting signs and symptoms (all three groups) and year of diagnosis and age at symptom onset (Groups B and C). Group B, which represents the infantile patients without cardiomyopathy and juvenile Pompe cases, had the longest median gap (12.6 years). Diagnostic testing methods used also were reviewed. Despite the availability of blood-based assays that can be used to quickly and accurately diagnose Pompe disease, diagnostic gaps in Pompe patients across the disease spectrum continue.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina.
authors.forename: Priya S
authors.initials: PS
authors.lastname: Kishnani
authors.forename: Hernán M
authors.initials: HM
authors.lastname: Amartino
authors.forename: Christopher
authors.initials: C
authors.lastname: Lindberg
authors.forename: Timothy M
authors.initials: TM
authors.lastname: Miller
authors.forename: Amanda
authors.initials: A
authors.lastname: Wilson
authors.forename: Joan
authors.initials: J
authors.lastname: Keutzer
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D057210:Delayed Diagnosis; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000453:epidemiology; D006801:Humans; D007223:Infant; D008297:Male; D012042:Registries; D013997:Time Factors
keywords: Pompe disease; blood-based assays; diagnosis; diagnostic delay; lysosomal storage disorder; registry; symptoms