SHOULD patients with asymptomatic pompe disease be treated? A nationwide study in france

• Published in: Muscle & nerve Vol. 51; no. 6; pp. 884 - 889
• Main Authors: Echaniz-Laguna, Andoni, Carlier, Robert-Yves, Laloui, Kenza, Carlier, Pierre, Salort-Campana, Emmanuelle, Pouget, Jean, Laforet, Pascal
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.06.2015; Wiley Subscription Services, Inc
• Subjects: Adult; Aged; alpha-Glucosidases - genetics; alpha-Glucosidases - metabolism; asymptomatic; Cohort Studies; Creatine Kinase - blood; Drug therapy; Electrocardiography; enzyme replacement therapy; Female; France - epidemiology; Glycogen Storage Disease Type II - complications; Glycogen Storage Disease Type II - diagnosis; Glycogen Storage Disease Type II - therapy; Humans; late-onset; Lysosomal Storage Diseases - etiology; Magnetic Resonance Imaging; Male; Medical research; Middle Aged; Muscular Diseases - etiology; myopathy; Pompe disease; Respiratory Function Tests; whole-body muscle MRI; Young Adult; France; Pompe disease; enzyme replacement therapy; whole-body muscle MRI; myopathy; late-onset; asymptomatic
• ISSN: 0148-639X; 1097-4598
• DOI: 10.1002/mus.24653

ABSTRACT Introduction: Acid α‐glucosidase deficiency, that is, Pompe disease, is a glycogenosis for which enzyme replacement therapy (ERT) is available. It is not known whether patients diagnosed at an asymptomatic stage should be treated to prevent progression of the disease. Methods: We investigated 7 patients with asymptomatic Pompe disease identified from the French Pompe registry. Results: The patients had a mean age of 45 (range 24–75) years, a median follow‐up duration of 2 (range 1–22) years, and normal clinical examination, pulmonary function tests (PFTs), and echocardiography. All presented with at least 1 subclinical abnormality, including hyperCKemia, vacuolar myopathy, and muscle MRI abnormalities, suggesting that subclinical myopathy was present in all cases. Conclusions: Asymptomatic Pompe disease may remain clinically silent for decades, and affected patients should be monitored closely for overt myopathy using clinical examination, PFTs, and muscle MRI to determine when to start ERT. Muscle Nerve 51: 884–889, 2015