Assessment of bone mineral density by dual energy x-ray absorptiometry in patients with mucopolysaccharidoses

Abstract

BackgroundPatients with mucopolysaccharidoses (MPS) are associated with poor bone growth and mineralization, however, information regarding the assessment of bone mineral density (BMD) in relation to age and treatment in this disorder is limited.MethodsDual energy x-ray absorptiometry (DXA) was performed in 30 patients with MPS (21 males and 9 females; 2 with MPS I, 12 with MPS II, 2 with MPS IIIB, 9 with MPS IVA, and 5 with MPS VI; median age, 10.8 years; age range, 5.0 years to 23.7 years; 26 patients were under 19 and 4 were above 19 years of age) to assess BMD of the lumbar spine (L1-L4), using the Hologic QDR 4500 system (Bedford, MA, USA).ResultsFor 26 patients under 19 years of age, standard deviation scores (z scores) for height, weight, body mass index (BMI), and BMD were −4.53 ± 2.66, -1.15 ± 1.55, 0.74 ± 1.23, and −3.03 ± 1.62, respectively, and they were all negatively correlated with age (p < 0.05). However, after correction for height-for-age z score (HAZ), HAZ adjusted BMD z score was −0.7 ± 1.24. Eight patients (31%) had osteopenia (HAZ adjusted BMD z score < −1 and ≥ −2), and 4 patients (15%) had osteoporosis (HAZ adjusted BMD z score < −2). Of 8 patients with MPS I, II or VI who underwent follow-up DXA after receiving enzyme replacement therapy for 1.0 to 7.4 years, all showed increase in absolute BMD values.ConclusionsThese findings and the follow-up data can be used to develop quality of care strategies for patients with MPS.

Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21‐year period

“…Liver and spleen size were assessed in comparison with the normal reference values for different body heights of children (Konuş et al, ). DXA was carried out to evaluate BMD of the lumbar spine (L1–L4), using the Hologic QDR 4500 system (Bedford, MA, USA) (Lin et al, ). Polysomnography was performed on the basis of the guidelines of the American Thoracic Society.…”

The relationships between urinary glycosaminoglycan levels and phenotypes of mucopolysaccharidoses

“…The clinical manifestations in these patients include coarse facial features, organomegaly, developmental delay, short stature, and skeletal deformities (dysostosis multiplex). In addition, vision and hearing conditions, airway obstruction, abnormal cardiovascular function, pulmonary function, bone mineral density, and joint mobility have also been reported (Lin et al, 2013;Muenzer, 2004Muenzer, , 2011. The clinical manifestations may present from early to late childhood or even in early adulthood depending on the severity and type of MPS.…”

Liver-Directed Human Amniotic Epithelial Cell Transplantation Improves Systemic Disease Phenotype in Hurler Syndrome Mouse Model

“…In humans, the constellation of skeletal dysplasia and spinal abnormalities (the latter not seen in the mouse model) are known as the dysostosis multiplex. In the mouse model, widening of the zygomatic arches, foreshortening of the premaxillary bones, and enlargement of the cranium have been especially well‐documented 31, 34, 38, 39. The increasing zygomatic bone volume and density in fact, is a signature phenotype of Idua –/– MPS1 mice 31 and was thus selected as a point of comparison for our study.…”

“…Abbreviations: BD, bile duct; CV, central vein; GAG, glycosaminoglycan; IDUA, a-L-iduronidase; PV, portal vein; WT, wild type. [31,34,38,39]. The increasing zygomatic bone volume and density in fact, is a signature phenotype of Idua -/-MPS1 mice [31] and was thus selected as a point of comparison for our study.…”