Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease.
BACKGROUND
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.


METHODS
We conducted a multicenter cross-sectional observational study from August 2012 to December 2013.


METHODS
All subjects were outpatients referred to University Referral Centers.


METHODS
PATIENTS included 22 late-onset Pompe disease patients with progressive proximal myopathy and minimal respiratory involvement without other diseases affecting bone mass.


METHODS
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.
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.
Francesco
F
Bertoldo
Francesca
F
Zappini
Martina
M
Brigo
Maurizio
M
Moggio
Valeria
V
Lucchini
Corrado
C
Angelini
Claudio
C
Semplicini
Massimiliano
M
Filosto
Sabrina
S
Ravaglia
Sofia
S
Cotelli
Alice
A
Todeschini
Mauro
M
Scarpelli
Serena
S
Pancheri
Paola
P
Tonin
D000293:Adolescent; D000328:Adult; D000368:Aged; D015519:Bone Density / Q000502:physiology*; D015897:Comorbidity; D003430:Cross-Sectional Studies; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000000981:diagnostic imaging / Q000453:epidemiology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010024:Osteoporosis / Q000000981:diagnostic imaging / Q000453:epidemiology*; D015995:Prevalence; D011859:Radiography; D016103:Spinal Fractures / Q000000981:diagnostic imaging / Q000453:epidemiology*; D055815:Young Adult