Varaldo Emanuele, Giannone Beatrice, Viglino Francesca, Settanni Fabio, Bioletto Fabio, Barale Marco, Procopio Massimo, Deaglio Silvia, Ghigo Ezio, Benso Andrea
Division of Endocrinology, Diabetology and Metabolism, Department of Medical Sciences, University of Turin, Corso Dogliotti, 14, Turin, 10126, Italy.
Endocrine Unit, Diabetes Regional Center, Treviglio, Italy.
J Endocrinol Invest. 2025 Jan;48(1):121-130. doi: 10.1007/s40618-024-02427-x. Epub 2024 Oct 3.
Fabry disease (FD) is an inherited X-linked lysosomal storage disease characterized by increased risk of osteoporosis and fractures. The impact of FD on clinical measures of bone quality is unknown. This considered, aim of our study was to evaluate whether trabecular bone microarchitecture, measured by trabecular bone score (TBS), is altered in patients with FD compared to control subjects.
This retrospective monocentric study enrolled 14 patients (M/F 1/1, median age 46 [37-63] years, range 31-72 years) newly diagnosed with FD between January 2016 and July 2023 who underwent dual-energy X-ray absorptiometry (DXA) image at the time of diagnosis and 42 matched controls. In all subjects, data about bone mineral density (BMD) and lumbar spine TBS were collected and total calcium, parathyroid hormone (PTH), 25(OH) vitamin D, alkaline phosphatase (ALP), creatinine and estimated glomerular filtration rate (eGFR) were evaluated. In subjects with FD, globotriaosylsphingosine (lyso-Gb3), 24-hour proteinuria and albumin-creatinine ratio were also assessed.
Patients with FD presented significantly lower lumbar spine TBS (1.29 [1.22-1.38] vs. 1.42 [1.39-1.47], p < 0.001) and lower lumbar spine BMD (0.916 ± 0.166 vs. 1.031 ± 0.125 g/cm, p = 0.008) compared to controls; moreover, FD was shown to be an independent risk factor for both low lumbar spine TBS (β = -0.118, p < 0.001) and BMD (β = -0.115, p = 0.009). No differences were found in serum calcium, ALP, 25(OH) vitamin D and eGFR in both groups, but FD patients had significantly higher PTH levels compared to controls (p = 0.016). Finally, 8 patients with FD presented either moderately or severely increased albuminuria and only 2 patients presented normal lyso-Gb3 levels.
Patients affected by FD present significantly lower lumbar spine TBS and BMD compared to controls. Our findings strongly support the importance of carrying out a thorough evaluation of bone status in all patients affected by FD at baseline.
法布里病（FD）是一种遗传性X连锁溶酶体贮积病，其特征是骨质疏松和骨折风险增加。FD对骨质量临床指标的影响尚不清楚。考虑到这一点，我们研究的目的是评估与对照组相比，法布里病患者通过小梁骨评分（TBS）测量的小梁骨微结构是否发生改变。
这项回顾性单中心研究纳入了2016年1月至2023年7月期间新诊断为FD的14例患者（男/女1/1，中位年龄46[37 - 63]岁，范围31 - 72岁），这些患者在诊断时接受了双能X线吸收测定（DXA）成像，并纳入了42例匹配的对照。在所有受试者中，收集了骨密度（BMD）和腰椎TBS的数据，并评估了总钙、甲状旁腺激素（PTH）、25（OH）维生素D、碱性磷酸酶（ALP）、肌酐和估计肾小球滤过率（eGFR）。在FD患者中，还评估了球三糖神经酰胺（lyso - Gb3）、24小时蛋白尿和白蛋白 - 肌酐比值。
与对照组相比，FD患者的腰椎TBS显著降低（1.29[1.22 - 1.38]对1.42[1.39 - 1.47]，p < 0.001），腰椎BMD也较低（0.916±0.166对1.031±0.125g/cm，p = 0.008）；此外,FD被证明是腰椎低TBS（β = -0.118，p < 0.001）和BMD（β = -0.115，p = 0.009）的独立危险因素。两组血清钙、ALP、25（OH）维生素D和eGFR均无差异，但FD患者的PTH水平显著高于对照组（p = 0.016）。最后，8例FD患者出现中度或重度蛋白尿增加，只有2例患者的lyso - Gb3水平正常。
与对照组相比，FD患者的腰椎TBS和BMD显著降低。我们的研究结果有力地支持了在所有FD患者基线时对骨状态进行全面评估的重要性。
