Session: FRI 224-247-Metabolic and Genetic Bone Disorders
Poster Board FRI-241
Methods. Seven patients (5M and 2F, 3 mts-26.0 yrs of age) with GSD diagnosed by biopsy underwent clinical, biochemical (Ctx, BAP, PTH, 25OHD, D-Dimer), karyotype, CGH-array and imaging evaluations (Total Body -TB- and spine DXA and STIR Total Body MRI) at baseline, after 6 months and than yearly. All patients presented osteolysis at baseline (clavicle n=1, ribs n=2, femur n=1, sternum n=1, omerus n=1, scapula n=2, ulna n=1, cranial basis) and 1 lately (parietal bone), 3 reported pathological fractures (clavicle n=1F, femur n=1M, rib n=1M) and 4 chylothorax. Three M underwent INFα2b treatment (1500000UI/m2on alternate days), 2M pamidronate for 1 year and 2M and 1F zolendronate therapy due to severity of disease or recidivism.
Results. Three out of 4 patients with a multifocal/extended GSD form presented low bone mineral density (BMD) for age and sex (Z-score): 1M and 1F at the TB scan and 2M and 1F at the spine (Z-scores between – 2.8 and –1.1) with mildly increased bone turnover markers and elevated D-Dimer at baseline and during disease recurrency of bone or pleura. TB Stir MRI revealed aspecific involvement (hyperintensity in STIR and hypointensity in T1) of multiple skeletal sites far from the primary localization in all, but also new foci of disease in 2 subjects. Five patients reached 4 years follow up; subjects on bisphosphonates showed acutely reduced bone pain, increased BMD of about 1 Z-score during follow up and significant reduction of D-Dimer. Karyotype and CGH were normal in all the patients tested. All patients are still alive.
Conclusion.As chilothorax or fragility fractures may be early complications of a massive osteolysis in GSD, a multidisciplinary team is warranted. Our preliminary findings suggest the potential usefulness of: 1) STIR TB MRI technique in detecting early skeletal foci of disease, although further evaluations are needed to support its sensitivity, 2) DXA scan in characterizing the severity of GSD and 3) anti-angiogenic and anti-reabsorption therapies in GSD control.
Nothing to Disclose: ND, NV, PD, MM
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