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ORIGINAL PAPER
Bone metabolism in patients with mucopolysaccharidosis type II
Submission date: 2014-07-25
Final revision date: 2014-11-17
Acceptance date: 2014-11-19
Online publication date: 2014-11-29
Publication date: 2014-12-31
Reumatologia 2014;52(6):354-361
KEYWORDS
TOPICS
ABSTRACT
Objectives: To assess different parameters of bone metabolism in patients with mucopolysaccharidosis type II (MPS II) to better comprehend the mechanisms responsible for their skeletal pathology.
Material and methods: In MPS type II patients (n = 7, age 4–28 years, mean 11.6, median 7) bone metabolism was assessed using the following: a) parameters of calcium-phosphate metabolism (serum level of calcium, phosphorus, alkaline phosphatase (ALP), parathormone (PTH), and vitamin 25(OH)D), b) parameters of bone formation (osteocalcin) and resorption (B-crossLaps), c) bone mineral density (BMD) of the lumbar spine assessed by dual-energy X-ray absorptiometry (DXA), and d) radiographs of the skeletal system.
Results: All patients were normocalcemic, but the majority of them had abnormal serum levels of other parameters of calcium-phosphate metabolism such as: hypophosphatemia (4/7), decreased ALP (2/7), increased PTH (4/7), and vitamin 25(OH)D deficiency (6/7), which in 3 patients was associated with secondary hyperparathyroidism. Five patients presented increased levels of osteocalcin in the serum, and all the patients had high levels of β-CTx. Two adult patients had osteoporosis (T-scores –3.9 and –5.7), while in 3 pediatric patients the Z-score was within the normal range. Radiographs of bones revealed signs of dysostosis multiplex typical for MPS disease in all patients, and in adult patients they corresponded to BMD.
Conclusions: 1. MPS II patients have disturbed serum parameters of bone health and therefore may be at a higher risk for osteoporosis or osteomalacia. 2. Supplementation with vitamin D may be required in MPS patients.
Material and methods: In MPS type II patients (n = 7, age 4–28 years, mean 11.6, median 7) bone metabolism was assessed using the following: a) parameters of calcium-phosphate metabolism (serum level of calcium, phosphorus, alkaline phosphatase (ALP), parathormone (PTH), and vitamin 25(OH)D), b) parameters of bone formation (osteocalcin) and resorption (B-crossLaps), c) bone mineral density (BMD) of the lumbar spine assessed by dual-energy X-ray absorptiometry (DXA), and d) radiographs of the skeletal system.
Results: All patients were normocalcemic, but the majority of them had abnormal serum levels of other parameters of calcium-phosphate metabolism such as: hypophosphatemia (4/7), decreased ALP (2/7), increased PTH (4/7), and vitamin 25(OH)D deficiency (6/7), which in 3 patients was associated with secondary hyperparathyroidism. Five patients presented increased levels of osteocalcin in the serum, and all the patients had high levels of β-CTx. Two adult patients had osteoporosis (T-scores –3.9 and –5.7), while in 3 pediatric patients the Z-score was within the normal range. Radiographs of bones revealed signs of dysostosis multiplex typical for MPS disease in all patients, and in adult patients they corresponded to BMD.
Conclusions: 1. MPS II patients have disturbed serum parameters of bone health and therefore may be at a higher risk for osteoporosis or osteomalacia. 2. Supplementation with vitamin D may be required in MPS patients.
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Copyright: © Narodowy Instytut Geriatrii, Reumatologii i Rehabilitacji w Warszawie. This is an Open Access journal, all articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) License (https://creativecommons.org/licenses/by-nc-sa/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.
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