Department of Orthopaedic Surgery, Gifu University, Graduate School of Medicine, 1-1, Yanagido, Gifu, 501-1194, Japan.
Osteoporos Int. 2020 Dec;31(12):2355-2361. doi: 10.1007/s00198-020-05533-7. Epub 2020 Jul 8.
We analyzed osteoporosis in 20 HME patients. According to the T-score of BMD, 30% and 67.5% of the patients fell in the range of osteopenia in the lumbar spine and femoral neck. Our results indicate HME patients have low bone mass. They do not have abnormal bone metabolism.
There are few reports of osteoporosis in hereditary multiple exostoses (HME) patients. Therefore, the purpose of this study was to analyze osteoporosis in HME patients.
This retrospective cohort study included 20 patients diagnosed with HME. Patients underwent bone mineral density (BMD) measurement of the lumbar spine (n = 20) and femoral neck (n = 40). Bone metabolic parameters, including serum osteocalcin and urinary cross-linked N-telopeptide of type 1 collagen (NTx), were analyzed in all subjects. EXT1 and EXT2 genes were sequenced using genomic DNA. We also examined the correlation between genotype and BMD Z-score and T-score.
The mean BMD values of the lumbar spine were 1.085 ± 0.116 g/cm (n = 11) in male and 1.108 ± 0.088 g/cm (n = 9) in female. The mean BMD values of the femoral neck area were 0.759 ± 0.125 g/cm (n = 22) in male and 0.749 ± 0.115 g/cm (n = 18) in female. Z-score of most HME patients show < 0, indicating that these patients tend to have low bone mass compared with the age-matched population. According to the T-score of BMD, 30% (6 of 20) and 67.5% (27 of 40) of the patients fell in the range of osteopenia in the lumbar spine and femoral neck areas, respectively. Serum osteocalcin and urinary NTx were in the normal range in most patients. There was no significant correlation between genotypes and Z-score.
HME patients have low bone mass, especially in the femoral neck area. They do not have abnormal bone metabolism, and there was no correlation between genotypes and Z-score.
本研究旨在分析遗传性多发性外生骨疣（HME）患者的骨质疏松症情况。
本回顾性队列研究纳入了 20 例确诊为 HME 的患者。所有患者均接受了腰椎（n=20）和股骨颈（n=40）的骨密度（BMD）测量。分析了所有受试者的骨代谢参数，包括血清骨钙素和尿 1 型胶原交联 N 末端肽（NTx）。使用基因组 DNA 对 EXT1 和 EXT2 基因进行测序。我们还检查了基因型与 BMD Z 评分和 T 评分之间的相关性。
男性腰椎 BMD 值的平均值为 1.085±0.116 g/cm（n=11），女性为 1.108±0.088 g/cm（n=9）。男性股骨颈区 BMD 值的平均值为 0.759±0.125 g/cm（n=22），女性为 0.749±0.115 g/cm（n=18）。大多数 HME 患者的 Z 评分均<0，表明与年龄匹配的人群相比，这些患者的骨量较低。根据 BMD 的 T 评分，30%（20 例中的 6 例）和 67.5%（40 例中的 27 例）的患者腰椎和股骨颈区域分别处于骨质疏松症范围内。大多数患者的血清骨钙素和尿 NTx 均处于正常范围内。基因型与 Z 评分之间无显著相关性。
HME 患者的骨量较低，尤其是在股骨颈区域。他们的骨代谢无异常，且基因型与 Z 评分之间无相关性。
