Assessment of bone mineral density in adults and children with Marfan syndrome

Giampietro, Philip F.; Peterson, Margaret G. E.; Schneider, Robert J.; Davis, Jessica G.; Raggio, Cathleen; Myers, Elizabeth; Burke, Stephen W.; Boachie-Adjei, Oheneba; Mueller, Charles

doi:10.1007/s00198-003-1433-0

Cited by 51 publications

(23 citation statements)

References 16 publications

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“…In a previously published study where BMD was assessed with a Lunar DPXL instrument [11], BMD measurements corresponding to osteopenia in the femoral neck of adult men with Marfan syndrome ( P < 0.001) were reported. Carter et al [10], using Hologic QDR1000 to assess BMD, also reported lower values for femoral neck BMD ( P < 0.05) in men whose average age was much younger compared to men in the study of Giampietro et al [11], although differences observed by this group were more pronounced. Conflicting results were obtained regarding BMD status in adult women with Marfan syndrome [6, 7, 9–11].…”

Section: Introductionmentioning

confidence: 99%

Bone Mineral Density Determinations by Dual-Energy x-ray Absorptiometry in the Management of Patients with Marfan Syndrome—Some Factors Which Affect the Measurement

Giampietro

Peterson

Schneider

et al. 2007

HSS Journal®: The Musculoskeletal Journal of Hospital for Speci

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Reduced bone mineral density (BMD) was sporadically reported in patients with Marfan syndrome. This may or may not place the Marfan patient at increased risk for bone fracture. In comparing the BMDs of our patients with those reported in the literature, it seemed that agreement between values, and hence the degree of osteoporosis or osteopenia reported, was dependent on the instrumentation used. The objective of this study was to statistically assess this impression. Bone mineral density measurements from our previously published study of 30 adults with Marfan syndrome performed on a Lunar DPXL machine were compared with studies published between 1993–2000 measured using either Lunar or Hologic bone densitometry instruments. The differences of our measurements compared with those made on other Lunar machines were not statistically significant, but did differ significantly with published results from Hologic machines (P < 0.001). Before progress can be made in the assessment of BMD and fracture risk in Marfan patients and in the evidence-based orthopedic management of these patients, standardization of instrumental bone density determinations will be required along with considerations of height, obesity, age, and sex.

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Section: Introductionmentioning

confidence: 99%

Bone Mineral Density Determinations by Dual-Energy x-ray Absorptiometry in the Management of Patients with Marfan Syndrome—Some Factors Which Affect the Measurement

Giampietro

Peterson

Schneider

et al. 2007

HSS Journal®: The Musculoskeletal Journal of Hospital for Speci

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“…Other data indicated that MFS children have significantly lower BMC as well as whole-body and lumbar-spine BMD compared with controls that were matched for age, sex, height, and ethnicity [189]. In contrast, another study reported normal BMD at the lumbar spine and femoral neck in 21 MFS children [186]. …”

Section: Introductionmentioning

confidence: 99%

The ever-expanding conundrum of primary osteoporosis: aetiopathogenesis, diagnosis, and treatment

et al. 2014

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In recent years, as knowledge regarding the etiopathogenetic mechanisms of bone involvement characterizing many diseases has increased and diagnostic techniques evaluating bone health have progressively improved, the problem of low bone mass/quality in children and adolescents has attracted more and more attention, and the body evidence that there are groups of children who may be at risk of osteoporosis has grown. This interest is linked to an increased understanding that a higher peak bone mass (PBM) may be one of the most important determinants affecting the age of onset of osteoporosis in adulthood. This review provides an updated picture of bone pathophysiology and characteristics in children and adolescents with paediatric osteoporosis, taking into account the major causes of primary osteoporosis (PO) and evaluating the major aspects of bone densitometry in these patients. Finally, some options for the treatment of PO will be briefly discussed.

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“…Several authors have observed reduced axial and peripheral bone mineral density (BMD) in adults (males and/or females) with MFS suggesting that these patients are at increased risk of fractures [Kohlmeier et al, 1993, 1995; Tobias et al, 1995; Le Parc et al, 1999; Carter et al, 2000; Giampietro et al, 2003, 2007; Moura et al, 2006]. Conversely, some authors did not find evidence of osteopenia [Gray et al, 1993].…”

Section: Introductionmentioning

confidence: 99%

“…To our knowledge, there is one study including children with MFS (n = 16), which showed low BMD at femoral neck and a trend towards reduced lumbar spine BMD [Kohlmeier et al, 1995]. Another study reported normal BMD in MFS children (n = 21) at lumbar spine and femoral neck [Giampietro et al, 2003]. Hence, it is unclear whether bone mineral density is low in children with MFS.…”

Section: Introductionmentioning

confidence: 99%

Assessment of bone mineral status in children with Marfan syndrome

Grover

Brunetti‐Pierri

Belmont

et al. 2012

American J of Med Genetics Pt A

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Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with skeletal involvement. It is caused by mutations in fibrillin1 (FBN1) gene resulting in activation of TGF-β, which developmentally regulates bone mass and matrix properties. There is no consensus regarding bone mineralization in children with MFS. Using dual-energy X-ray absorptiometry (DXA), we evaluated bone mineralization in 20 children with MFS unselected for bone problems. z-Scores were calculated based on age, gender, height, and ethnicity matched controls. Mean whole body bone mineral content (BMC) z-score was 0.26 ± 1.42 (P = 0.41). Mean bone mineral density (BMD) z-score for whole body was −0.34 ± 1.4 (P = 0.29) and lumbar spine was reduced at −0.55 ± 1.34 (P = 0.017). On further adjusting for stature, which is usually higher in MFS, mean BMC z-score was reduced at −0.677 ± 1.37 (P = 0.04), mean BMD z-score for whole body was −0.82 ± 1.55 (P = 0.002) and for lumbar spine was −0.83 ± 1.32 (P = 0.001). An increased risk of osteoporosis in MFS is controversial. DXA has limitations in large skeletons because it tends to overestimate BMD and BMC. By adjusting results for height, age, gender, and ethnicity, we found that MFS patients have significantly lower BMC and BMD in whole body and lumbar spine. Evaluation of diet, exercise, vitamin D status, and bone turnover markers will help gain insight into pathogenesis of the reduced bone mass. Further, larger longitudinal studies are required to evaluate the natural history, incidence of fractures, and effects of pharmacological therapy. © 2012 Wiley Periodicals, Inc.

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Assessment of bone mineral density in adults and children with Marfan syndrome

Cited by 51 publications

References 16 publications

Bone Mineral Density Determinations by Dual-Energy x-ray Absorptiometry in the Management of Patients with Marfan Syndrome—Some Factors Which Affect the Measurement

Bone Mineral Density Determinations by Dual-Energy x-ray Absorptiometry in the Management of Patients with Marfan Syndrome—Some Factors Which Affect the Measurement

The ever-expanding conundrum of primary osteoporosis: aetiopathogenesis, diagnosis, and treatment

Assessment of bone mineral status in children with Marfan syndrome

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