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Asymptomatic vertebral fractures common in patients with late-onset Pompe disease
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Asymptomatic and atraumatic vertebral fractures occurred frequently in patients with late-onset Pompe disease without a significant impairment of bone mass, according to research published in The Journal of Clinical Endocrinology & Metabolism.
These findings suggest patients with late-onset Pompe disease (LOPD) should be routinely screened for asymptomatic vertebral fractures, irrespective of disease severity or pain, according to researchers.
In a cross-sectional, observational study, Francesco Bertoldo, MD, of the University of Verona, Italy, and colleagues looked at 22 patients (13 men, nine women; median age, 40.5 years) with LOPD referred to universities; all patients had progressive proximal myopathy, minimal respiratory involvement and no other conditions affecting bone mass.
The researchers aimed to determine morphometric vertebral fracture prevalence and evaluate bone mass; semiquantitative analysis of the lateral spine X-ray (T4-L5) was conducted to systematically assess fractures.
Morphometric vertebral fractures were common, with at least one vertebral fracture seen in 17 of 22 patients (77%); all vertebral fractures were asymptomatic. Bone mineral density was normal in 36.5% of patients. Osteopenia was observed in 36.5% of patients and osteoporosis in 27% of patients in at least one site.
“The impressive high risk for vertebral fracture seems to be independent of the clinical phenotype and genotype and from other known fracture risk factors,” the researchers wrote.
The risk of fracture in patients with LOPD, however, should be confirmed in longitudinal studies, they underscored.
“Our data are not conclusive and more studies should be promoted to understand the pathogenesis of bone alterations in Pompe disease,” the researchers wrote.
Disclosure: The researchers report no relevant financial disclosures.
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