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Published in: Skeletal Radiology 3/2012

01-03-2012 | Scientific Article

Radiological features of Paget disease of bone associated with VCP myopathy

Authors: Farzin Farpour, Jamshid Tehranzadeh, Sandra Donkervoort, Charles Smith, Barbara Martin, Pari Vanjara, Kathryn Osann, Virginia E. Kimonis

Published in: Skeletal Radiology | Issue 3/2012

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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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Metadata
Title
Radiological features of Paget disease of bone associated with VCP myopathy
Authors
Farzin Farpour
Jamshid Tehranzadeh
Sandra Donkervoort
Charles Smith
Barbara Martin
Pari Vanjara
Kathryn Osann
Virginia E. Kimonis
Publication date
01-03-2012
Publisher
Springer-Verlag
Published in
Skeletal Radiology / Issue 3/2012
Print ISSN: 0364-2348
Electronic ISSN: 1432-2161
DOI
https://doi.org/10.1007/s00256-011-1193-4

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