Abstract
Objective
Mutations in the Valosin-containing protein (VCP) gene cause a unique disorder characterized by classic Paget disease of bone (PDB), inclusion body myopathy, and frontotemporal dementia (IBMPFD). Our objective was to analyze the radiographic features of PDB associated with VCP mutations since there is a dearth of literature on the PDB component of VCP disease.
Materials and methods
Radiographic bone surveys were examined in 23 individuals with VCP mutation and compared with their unaffected relatives. Laboratory testing relevant for VCP disease was performed in all individuals.
Results
Of the 17 affected individuals with clinical manifestations of VCP disease, 16 of whom had myopathy, radiographic analysis revealed classic PDB in 11 individuals (65%). The mean age of diagnosis for myopathy was 43.8 years and for PDB was 38.1 years of age. Radiological evidence of PDB was seen in one individual (16%) amongst six clinically asymptomatic VCP mutation carriers. Alkaline phosphatase was a useful marker for diagnosing PDB in VCP disease.
Conclusions
Radiographic findings of classic PDB are seen in 52% of individuals carrying VCP mutations at a significantly younger age than conventional PDB. Screening for PDB is warranted in at-risk individuals because of the benefit of early treatment with the new powerful bisphosphonates that hold the potential for prevention of disease.
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Acknowledgements
We thank the patients and their health care providers for their participation and contribution to these studies. We acknowledge funding by the NIAMS, NIH for grant AR050236, and NIA for AG025159, the Muscular Dystrophy Association, the GCRC (General Clinical Research Center) at the University of Kentucky, Lexington, Kentucky, and the ICTS (Institute of Clinical and Translational Science) at the University of California, Irvine.
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The authors declare no conflicts of interest.
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Farpour, F., Tehranzadeh, J., Donkervoort, S. et al. Radiological features of Paget disease of bone associated with VCP myopathy. Skeletal Radiol 41, 329–337 (2012). https://doi.org/10.1007/s00256-011-1193-4
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DOI: https://doi.org/10.1007/s00256-011-1193-4