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Scanning Skeletal Remains for Bone Mineral Density in Forensic Contexts
Published on: January 29, 2018
Bone density in patients with late onset Pompe disease
George Papadimas1, Gerassimos Terzis, Constantinos Papadopoulos
1Department of Neurology, University of Athens, School of Medicine, Eginition Hospital, Athens, Greece.
International Journal of Endocrinology and Metabolism
|July 12, 2013
Summary
Bone mineral density (BMD) may be reduced in some late-onset Pompe disease patients, but enzyme replacement therapy (ERT) shows potential for improvement. Further studies are needed to confirm these findings in larger patient groups.
Area of Science:
- Metabolic disorders
- Genetics and inherited diseases
- Bone health and osteoporosis
Background:
- Pompe disease results from alpha-glucosidase deficiency, causing glycogen buildup in tissues.
- Late-onset Pompe disease presents with varied symptoms, including muscle and respiratory issues.
- Reduced bone mineral density (BMD) is increasingly recognized in Pompe disease patients.
Purpose of the Study:
- To evaluate BMD changes in late-onset Pompe disease patients before and after enzyme replacement therapy (ERT).
Main Methods:
- Dual-energy X-ray absorptiometry (DEXA) scans were performed on eight adult patients.
- Four patients were newly diagnosed, and four were undergoing ERT.
- BMD was assessed before and after 18-36 months of ERT.
Main Results:
- Initially, total body BMD was normal, but L2-L4 and femoral neck BMD were reduced in some patients.
- Following ERT, improvements in L2-L4 lumbar spine BMD were observed in two patients.
- One patient showed improvement in femoral neck BMD z-score after ERT.
Conclusions:
- Regional BMD may be moderately reduced in some late-onset Pompe disease patients, but severe osteopenia is uncommon.
- ERT may lead to improvements in BMD at specific sites, warranting further investigation in larger cohorts.
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