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Radiological features of Paget disease of bone associated with VCP myopathy
Farzin Farpour1, Jamshid Tehranzadeh, Sandra Donkervoort
1Department of Radiology, VA Long Beach Health Care, University of California, Irvine, CA, USA. farpourf@nychhc.org
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.
Insights
Valosin-containing protein (VCP) gene mutations cause Paget disease of bone (PDB) and other disorders. This study found classic PDB in 52% of VCP mutation carriers, often diagnosed at a younger age.
Area of Science:
- Genetics
- Bone Metabolism
- Neurology
Background:
- Valosin-containing protein (VCP) gene mutations are linked to a rare syndrome encompassing Paget disease of bone (PDB), inclusion body myopathy, and frontotemporal dementia (IBMPFD).
- Limited research exists on the Paget disease of bone (PDB) manifestations within VCP-associated disease.
Purpose of the Study:
- To investigate the radiographic characteristics of Paget disease of bone (PDB) in individuals with Valosin-containing protein (VCP) gene mutations.
- To contribute to the understanding of the bone disease component in VCP-related disorders.
Main Methods:
- Radiographic bone surveys were conducted on 23 individuals with VCP mutations and compared to unaffected relatives.
- Laboratory tests relevant to VCP disease were performed on all participants.
Main Results:
- Classic Paget disease of bone (PDB) was identified in 11 out of 17 affected individuals (65%), with a mean PDB diagnosis age of 38.1 years.
- PDB was observed in 16% of clinically asymptomatic VCP mutation carriers.
- Alkaline phosphatase levels served as a valuable indicator for PDB diagnosis in VCP disease.
Conclusions:
- Approximately 52% of individuals with VCP mutations exhibit radiographic evidence of classic Paget disease of bone (PDB).
- The onset of PDB in VCP mutation carriers occurs at a significantly younger age compared to typical PDB.
- Early screening for PDB in at-risk individuals is recommended due to the availability of effective bisphosphonate treatments for potential disease prevention.
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