Francesco Bertoldo1, Francesca Zappini, Martina Brigo, Maurizio Moggio, Valeria Lucchini, Corrado Angelini, Claudio Semplicini, Massimiliano Filosto, Sabrina Ravaglia, Sofia Cotelli, Alice Todeschini, Mauro Scarpelli, Serena Pancheri, Paola Tonin. 1. Internal Medicine (F.B., M.B., S.P.), Department of Medicine, and Department of Neurological Sciences and Movement (F.Z., M.S., P.T.), University of Verona, 37134 Verona, Italy; Neuromuscular Unit (M.M., V.L.), IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, University of Milan 20122, Italy; Department of Neurosciences (C.A., C.S.), Sciences Scienze Neurologiche, Psichiatriche, Sensoriali, Ricostruttive, Riabilitative, University of Padova, Padova 35128, Italy; Clinical Neurology (M.F., S.C., A.T.), Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Brescia 25123, Italy; and Department of Public Health and Neurosciences (S.R.), University of Pavia, Pavia 27100, Italy.
Abstract
CONTEXT: Bone fragility and low bone mass have been reported in small case series of patients with Pompe disease with severely reduced muscle strength or immobilization. OBJECTIVE: Our objective was to determine the prevalence of morphometric vertebral fractures and to evaluate bone mass in adults with late-onset Pompe disease. DESIGN: We conducted a multicenter cross-sectional observational study from August 2012 to December 2013. STUDY SETTING: All subjects were outpatients referred to University Referral Centers. PATIENTS: PATIENTS included 22 late-onset Pompe disease patients with progressive proximal myopathy and minimal respiratory involvement without other diseases affecting bone mass. MAIN OUTCOME MEASURE: The prevalence of morphometric vertebral fractures was systematically assessed by semiquantitative analysis of lateral spine x-rays (T4-L5). RESULTS: A high prevalence of morphometric vertebral fractures was found. At least 1 vertebral fracture was present in 17 of 22 patients (77%). All vertebral fractures were asymptomatic. Bone mineral density was normal in 36.5% of the patients, whereas 36.5% were osteopenic and 27% were osteoporotic in at least 1 site. Fracture prevalence was independent of muscular and respiratory functional parameters and of genotype. CONCLUSIONS: Our data show for the first time that asymptomatic and atraumatic vertebral fractures occur frequently in late-onset Pompe disease patients without a significant impairment of bone mass. Screening for asymptomatic vertebral fractures should be routinely performed in Pompe disease irrespective of the disease severity. Fracture risk should be confirmed in longitudinal studies.
CONTEXT: Bone fragility and low bone mass have been reported in small case series of patients with Pompe disease with severely reduced muscle strength or immobilization. OBJECTIVE: Our objective was to determine the prevalence of morphometric vertebral fractures and to evaluate bone mass in adults with late-onset Pompe disease. DESIGN: We conducted a multicenter cross-sectional observational study from August 2012 to December 2013. STUDY SETTING: All subjects were outpatients referred to University Referral Centers. PATIENTS: PATIENTS included 22 late-onset Pompe disease patients with progressive proximal myopathy and minimal respiratory involvement without other diseases affecting bone mass. MAIN OUTCOME MEASURE: The prevalence of morphometric vertebral fractures was systematically assessed by semiquantitative analysis of lateral spine x-rays (T4-L5). RESULTS: A high prevalence of morphometric vertebral fractures was found. At least 1 vertebral fracture was present in 17 of 22 patients (77%). All vertebral fractures were asymptomatic. Bone mineral density was normal in 36.5% of the patients, whereas 36.5% were osteopenic and 27% were osteoporotic in at least 1 site. Fracture prevalence was independent of muscular and respiratory functional parameters and of genotype. CONCLUSIONS: Our data show for the first time that asymptomatic and atraumatic vertebral fractures occur frequently in late-onset Pompe disease patients without a significant impairment of bone mass. Screening for asymptomatic vertebral fractures should be routinely performed in Pompe disease irrespective of the disease severity. Fracture risk should be confirmed in longitudinal studies.
Authors: I Rodríguez-Gómez; A Santalla; J Díez-Bermejo; D Munguía-Izquierdo; L M Alegre; G Nogales-Gadea; J Arenas; M A Martín; A Lucía; I Ara Journal: J Inherit Metab Dis Date: 2018-03-28 Impact factor: 4.982
Authors: Ali Al Shehri; Abdullah Al-Asmi; Abdullah Mohammed Al Salti; Abubaker Almadani; Ali Hassan; Ahmed K Bamaga; Edward J Cupler; Jasem Al-Hashel; Majed M Alabdali; Mohammed H Alanazy; Suzan Noori Journal: J Neuromuscul Dis Date: 2022