Delayed diagnosis of late-onset Pompe disease in patients with myopathies of unknown origin and/or hyperCKemia

• Published in: Molecular genetics and metabolism Vol. 114; no. 4; pp. 580 - 583
• Main Authors: Pérez-López, Jordi, Selva-O'Callaghan, Albert, Grau-Junyent, Josep M., Gallego-Galindo, Luis, Coll, M. Josep, García-Morillo, Salvador, Torralba-Cabeza, Miguel A., Vilardell-Tarrés, Miquel
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.04.2015
• Subjects: Adult; Alpha glucosidase; alpha-Glucosidases - blood; Cohort Studies; Creatine Kinase - genetics; Creatine Kinase - metabolism; Delayed Diagnosis; Dried Blood Spot Testing; Female; Genetic Testing; Glycogen Storage Disease Type II - diagnosis; Humans; Idiopathic hyperCKemia; Maltase deficiency; Middle Aged; Muscular Diseases - etiology; Muscular Diseases - genetics; Mutation; Myopathy; Polymyositis - etiology; Polymyositis - genetics; Pompe disease; Alpha glucosidase; Maltase deficiency; Pompe disease; Idiopathic hyperCKemia; Myopathy
• ISSN: 1096-7192; 1096-7206; 1096-7206
• DOI: 10.1016/j.ymgme.2015.02.004

Pompe disease is a rare metabolic myopathy whose diagnosis is sometimes delayed despite being essential for improving clinical outcomes. We aimed to investigate the prevalence of late-onset Pompe disease among patients with a myopathy of unknown etiology, including polymyositis, or with idiopathic rise of creatine kinase (CK) levels, in a department of internal medicine. A cohort study was conducted in 241 subjects: 140 patients with myopathies of unknown origin or increased CK levels, 30 with polymyositis and 71 who constituted the control group of other myopathies. Acid α-glucosidase (GAA) activity was tested in dried blood spots. If a positive result was obtained, GAA activity in isolated lymphocytes and/or genetic testing was performed as a confirmatory diagnosis. Out of the 140 investigated patients, 2 patients with myopathies of unknown origin were confirmed to be positive for Pompe disease. Thus, late-onset Pompe disease should be considered among adult patients with myopathy of unknown origin. •2 out of 62 patients with unclassified myopathies were diagnosed with Pompe disease.•Diagnosis of LOPD should be considered among patients with myopathy of unknown origin.•1 patient showed a false DBS positive result; thus, the importance of confirmation.•Confirmation in lymphocytes or genetic analysis should follow a positive DBS test.