Objective: To characterize the bone phenotype, including bone metabolism and skeletal manifestations, in some family members affected by late-onset Pompe disease (LOPD) with the same genotype. Materials and Methods: In a family of 13 siblings (9 males and 4 females) born from nonconsanguineous parents, of which 10 were affected by LOPD, we studied the 7 siblings (4 men, 3 women) that presented the same genotype (p.R40X/p.N882fs). The diagnosis of LOPD was confirmed through genetic mutation analysis and measurement of decreased acid alfa-glucosidase gene (GAA) activity in fibroblasts. The BMD at the total body less head (TBLH), at the lumbar spine (LS; L1–L4), and at the femoral neck (FN) was measured by DXA; a standard X-ray lateral projection was performed for each patient. Biochemical monitoring of bone metabolism was also performed. Moreover, muscle strength was assessed by an hand-held Jamar hydraulic dynamometer. All patients started Enzyme Replacement Therapy (ERT) with recombinant human acid α- glucosidase (rhGAA) on 2011 and ambulated independently without aids. Results: The 7 siblings analyzed in the present study had a mean (SD) age of 52 (6.2) years. Of all patients, 2 had osteoporosis (Ts <−2.5 SD), 2 had a low bone mass (Ts> −2.5 SD and< −1 SD); these 4 patients had also hypovitaminosis D (<30 ng/ml). One of them, a female, had also 2 vertebral fragility fractures. Furthermore, all male patients had low grip strength. In all patients there were not alterations of other biochemical parameters. Conclusions: Results of this study suggested that low BMD, hypovitaminosis D, and reduced muscle strength are common features in our cohort of patients affected by LOPD with p.R40X/p.N882fs genotype. Therefore, assessment of skeletal fragility, muscle function, and 25-OH-D3 serum levels should not be limited to inactive and immobile patients, but it should be also included in an early evaluation of all subjects affected by LOPD. However, further research is needed to fully elucidate the mechanism of bone metabolic alterations in Pompe disease and the effect of ERT on bone involvement in these patients.
|Titolo:||P165 MUSCULOSKELETAL INVOLVEMENT IN NEUROMUSCULAR GENETIC DISEASES: THE CASE STUDY OF A FAMILY AFFECTED BY LATE ONSET POMPE DISEASE|
|Data di pubblicazione:||2016|
|Appare nelle tipologie:||1.5 Abstract in rivista|