Delayed diagnosis of late-onset Pompe disease in patients with myopathies of unknown origin and/or hyperCKemia.
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.
Department of Internal Medicine, Hospital Vall d'Hebron, 119-129, 08035, Barcelona, Spain. Electronic address: jordpere@vhebron.net.
Jordi
J
Pérez-López
Department of Internal Medicine, Hospital Vall d'Hebron, 119-129, 08035, Barcelona, Spain. Electronic address: aselva@vhebron.net.
Albert
A
Selva-O'Callaghan
Department of Internal Medicine, Hospital Clínic, Carrer Villarroel, 170, 08036, Barcelona, Spain. Electronic address: JMGRAU@clinic.ub.es.
Josep M
JM
Grau-Junyent
Department of Internal Medicine, Hospital Vall d'Hebron, 119-129, 08035, Barcelona, Spain. Electronic address: lugallego@vhebron.net.
Luis
L
Gallego-Galindo
Department of Biochemistry and Molecular Genetics, Hospital Clínic, Carrer Villarroel, 170, 08036, Barcelona, Spain. Electronic address: mjcoll@clinic.ub.es.
M Josep
MJ
Coll
Department of Internal Medicine, Hospital Virgen del Rocío, Avenida Manuel Siurot, s/n, 41013, Sevilla, Spain. Electronic address: salvaymar@gmail.com.
Salvador
S
García-Morillo
Department of Internal Medicine, Hospital Lozano Blesa, Avenida San Juan Bosco, 15, 50009 Zaragoza, Spain. Electronic address: mantorralba@gmail.com.
Miguel A
MA
Torralba-Cabeza
Department of Internal Medicine, Hospital Vall d'Hebron, 119-129, 08035, Barcelona, Spain. Electronic address: mvilardell@vhebron.net.
Miquel
M
Vilardell-Tarrés
D000328:Adult; D015331:Cohort Studies; D003402:Creatine Kinase / Q000235:genetics / Q000378:metabolism; D057210:Delayed Diagnosis; D059788:Dried Blood Spot Testing; D005260:Female; D005820:Genetic Testing; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis*; D006801:Humans; D008875:Middle Aged; D009135:Muscular Diseases / Q000209:etiology* / Q000235:genetics; D009154:Mutation; D017285:Polymyositis / Q000209:etiology / Q000235:genetics; D000520:alpha-Glucosidases / Q000097:blood
D003402:Creatine Kinase; D000520:alpha-Glucosidases
Alpha glucosidase; Idiopathic hyperCKemia; Maltase deficiency; Myopathy; Pompe disease