Evaluation of bone health in patients with mucopolysaccharidosis

J Bone Miner Metab. 2022 Jan 23. doi: 10.1007/s00774-021-01304-4.

PMID: 35066680

Deniz Kor, Fatma Derya Bulut, Sebile Kılavuz

Highlights: This study aimed to evaluate the relationship between clinical findings, height and weight standard deviation scores, 25-hydroxyvitamin D3 (25(OH)D3) level, and dual-energy X-ray absorptiometry (DXA) results in patients diagnosed with mucopolysaccharidosis (MPS).

Abstract

Introduction: The goal of this study was to see if there was a link between clinical findings, height and weight standard deviation scores, 25-hydroxyvitamin D3 (25(OH)D3) levels, and dual-energy X-ray absorptiometry (DXA) results in patients with mucopolysaccharidosis (MPS) who could benefit from effective current treatments like enzyme replacement therapy (ERT).

Materials and Methods: In 126 MPS patients, the level of 25(OH)D3 was tested (17 with MPS I, 14 with MPS II, 18 with MPS III, 33 with MPS IVA, and 44 with MPS VI; 24-524 months). DXA was used to examine bone mineral density (BMD) of the lumbar spine in 45 of these individuals (8 with MPS I, 4 with MPS II, 4 with MPS III, 12 with MPS IVA, and 17 with MPS VI; 62-197 months; all patients were under 18 at the time of DXA).

Results: 67.5% of the patients were low in stature, and 50% were underweight for their age. 13.5% of the patients were immobile, 28.6% had a deficiency in 25(OH)D3, and 30.2 percent had an insufficient amount of 25(OH)D3. 45 individuals had a BMD z score of -2.5 ± 1.7. It was < -2 in 40% of the patients. The height-for-age (HAZ)-adjusted BMD z score was -0.1 ± 0.9 after correction for height-for-age z score (HAZ). It was < -2 in 2.2 percent of the patients.

Conclusion: In children with MPS and short stature, the low BMD z score prevalence reported by DXA was misleadingly greater. The influence of severe short stature and bone geometry on DXA measurements should be examined to avoid unnecessary antiresorptive medications in these children; more investigations on bone health are recommended.

Keywords: MPS, 25(OH)D3, Bone mineral density, Dysostosis multiplex, Mucopolysaccharidosis, Skeletal system