Decreased trabecular bone score in patients affected by Fabry disease.

IF 5.4 2区医学 Q1 Medicine

Journal of Endocrinological Investigation Pub Date : 2024-10-03 DOI:10.1007/s40618-024-02427-x

Emanuele Varaldo, Beatrice Giannone, Francesca Viglino, Fabio Settanni, Fabio Bioletto, Marco Barale, Massimo Procopio, Silvia Deaglio, Ezio Ghigo, Andrea Benso

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引用次数: 0

Abstract

Background: 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.

Methods: 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.

Results: 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/cm², 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.

Conclusion: 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.

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法布里病患者骨小梁得分降低。

背景：法布里病（FD）是一种遗传性 X 连锁溶酶体贮积病，其特点是骨质疏松症和骨折的风险增加。法布里病对骨质临床指标的影响尚不清楚。因此，我们的研究旨在评估与对照组相比，用骨小梁评分（TBS）测量的骨小梁微结构是否会改变：这项回顾性单中心研究共纳入了 14 名在 2016 年 1 月至 2023 年 7 月期间新确诊为 FD 的患者（男/女各 1/1，中位年龄 46 [37-63] 岁，范围 31-72 岁），他们在确诊时接受了双能 X 射线吸收测量（DXA）成像，以及 42 名匹配的对照组。研究人员收集了所有受试者的骨矿密度（BMD）和腰椎TBS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）。此外，还对 FD 患者的球蛋白-Gb3、24 小时蛋白尿和白蛋白-肌酐比值进行了评估：结果：与对照组相比，FD 患者的腰椎 TBS 明显较低（1.29 [1.22-1.38] vs. 1.42 [1.39-1.47], p 2, p = 0.008）；此外，FD 被证明是腰椎 TBS 偏低的独立风险因素（β = -0.118，p 结论：FD 患者的腰椎 TBS 明显较低，与对照组相比，FD 患者的腰椎 TBS 明显较高（1.29 [1.22-1.38] vs. 1.42 [1.39-1.47], p 2, p = 0.008）：与对照组相比，FD 患者的腰椎 TBS 和 BMD 明显较低。我们的研究结果有力地证明了对所有 FD 患者的骨质状况进行全面评估的重要性。

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来源期刊

Journal of Endocrinological Investigation ENDOCRINOLOGY & METABOLISM-

CiteScore

8.10

自引率

7.40%

发文量

242

期刊介绍： The Journal of Endocrinological Investigation is a well-established, e-only endocrine journal founded 36 years ago in 1978. It is the official journal of the Italian Society of Endocrinology (SIE), established in 1964. Other Italian societies in the endocrinology and metabolism field are affiliated to the journal: Italian Society of Andrology and Sexual Medicine, Italian Society of Obesity, Italian Society of Pediatric Endocrinology and Diabetology, Clinical Endocrinologists’ Association, Thyroid Association, Endocrine Surgical Units Association, Italian Society of Pharmacology.